These seem to be the most interesting snps.
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Magnitude: 4
Male.
Magnitude: 4
Likely affected by hereditary hemochromatosis due to at least two copies of rs1799945(G) and/or rs1800562(A). This is potentially serious, but can be mild. This is an easily diagnosed and treatable disorder.
1.9x increased risk for CAD
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rs1333049 has been reported in a large study to be associated with heart disease, in particular, coronary artery disease. The risk allele (oriented to the dbSNP entry) is most likely (C); the odds ratio associated with heterozygotes is 1.47 (CI 1.27-1.70), and for homozygotes, 1.9 (CI 1.61-2.24). This SNP has also been reported to have the highest association of any SNP studied in a subsequent experiment conducted with the resources of the German MI [Myocardial Infarction] Family Study. The initial studies were conducted on Caucasian populations. A subsequent study of Japanese and Korean patients has also found rs1333049 to be associated with increased coronary artery disease risk, with roughly similar odds ratios. A long-term study of a cohort of 769 individuals finds that the rs1333049(C...
Two copies of H36D, likely affected by mild form of hemochromatosis You would be expected to experience Hereditary hemochromatosis based on your rs1799945(G;G) H63D status. This is a treatable condition.
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Those with two copies of rs1799945(G) H63D are likely affected with a mild form of Hereditary hemochromatosis. Those with one copy are unaffected unless also a carrier of rs1800562(A) C282Y. [PharmGKB:Curated HFE variants, HFE: His63Asp and HFE: Cys282Tyr, reduce the amount of r-HuEPO and iron necessary to support erythropoiesis in hemodialysis patients.] [OMIM:?] [GWAS:None]
8.2x risk for age related macular degeneration
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rs10490924 was identified as a risk factor from chromosome 10 related to age related macular degeneration. The risk allele is (T). Odds ratios for heterozygotes and homozygotes are, respectively, 2.69 (CI: 2.22-3.27) and 8.21 (CI: 5.79-11.65). Disease risk in combination with the rs1061170 SNP in the CFH gene is dramatically increased. Homozygotes for both the rare/risk alleles at both loci are estimated to be at 57 fold higher risk for age related macular degeneration than individuals homozygous for the common alleles at both loci. A subsequent study indicated that the risk based on solely the ARMS2 SNP rs10490924 is significantly higher in smokers than in non-smokers. Based on a study of ~750 patients, rs10490924 is significantly higher in participants with choroidal neovascularization t...
Magnitude: 3.1
impaired NSAID drug metabolism, which is a risk factor for gastrointestinal bleeding when taking any of these medications: aceclofenac, celecoxib, diclofenac, ibuprofen, indomethazine, lornoxicam, meloxicam, naproxen, piroxicam, tenoxicam and valdecoxib. You have one of these *CYP2C8*3 (rs11572080 and rs10509681) *CYP2C9*2 (rs1799853) *CYP2C9*3 (rs1057910)
Magnitude: 3
This genoset is linked to warfarin metabolism. An individual is considered to be an 'intermediate' metabolizer of warfarin if they carry either a single CYP2C9*2 allele or a single CYP2C9*3 allele, as defined by SNPs rs1799853 and rs1057910, respectively.
Magnitude: 3
You are heterozygous at all 3 of the SNPs which are known to influence the ability to taste bitterness. This means you are better than average at detecting bitter tastes while young, but that this ability will decrease to less than average during adulthood. As a child you will probably hate brussel sprouts, and by early adulthood will discover that olives and brussel sprouts now taste good. A 2010 study shows the change bitter sensitivity which occurs over the lifespan (from bitter sensitive to less so) is more common in people with this genoset. Children with this genotype could perceive a bitter taste at lower PROP concentrations than could heterozygous adults. The threshold for adolescents was intermediate. The 3 snps are rs10246939, rs1726866, rs713598 in the gene TAS2R38.
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[GWAS:Hemoglobin levels]
Autoimmune disorder risk (lupus, celiac disease) due to 2 HLA-DRB1*0301 alleles
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In at least UK populations, and perhaps others, SNP rs2187668 is a tag SNP for the HLA-DRB1*0301 allele. The HLA-DRB1*0301 allele is the allele presenting the highest risk for developing lupus, and it appears to act in a dominant manner (i.e. inheriting 2 copies is no worse than inheriting 1 copy). In dbSNP orientation, the risk allele is rs2187668(A), with an odds ratio of 2.3x (CI: 1.7 - 3.2, permuted p < 0.0001). From individuals with the most common rs2187668(G;G) genotype, risk is reduced for celiac disease, with an odds ratio of 0.30x according to a study of ~800 patients. rs2187668(A) also tags the tightly linked DQB1*0201 allele, which in turn is linked to DQA1*0501; together, these are known as the DQ2.5 haplotype. This is the most common haplotype associated with celiac diseas...
1.7x increased risk for heart disease spittoon People with this genotype and a long history of high blood sugar are at 7x risk of CAD
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rs10757274 and rs2383206 can double the risk of heart diseaseAbout one in every four Caucasians are thought to carry the gene variants. rs10757278] in the same region has been linked to diabetes a [http://suicyte.wordpress.com/2007/05/26/soul-searching-i/ blog post about investigating rs10757274 and rs2383206 This SNP was also associated with increased risk for coronary artery disease in a Korean population. Also found to be significant in a study of 416 Italian myocardial infarction patients. A study of 1,000+ patients with early-onset angiographic coronary artery disease (CAD) concluded that rs2383206(G) was associated with an adjusted odds ratio of 1.39 (CI: 1.05-1.85) for (A;G) heterozygotes and 1.73 (CI: 1.26-2.37) for (G;G) homozygotes. This SNP alone accounted for 21% of the populat...
unlikely to go bald
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23andMe seems to consider each A at rs925391 to have lowered men's odds of baldness by 11x. baldness *lowest P value of 2.110-12 for rs10521339 *family based rs938059 shows the lowest P value (4.0310-6) (table 3) *rs6152 (P=6.6610-10)
18.5x risk of Type-1 Diabetes Although found in approximately 1/3rd of all people, this variation appears to significantly increase risk of Type-1 diabetes. This increases your relative risk approximately 18x, which changes your lifetime risk from a very small 0.04% to a still very small 0.75% chance. Your odds are not 75%, they are 0.75%, which is less than 1%. You should consult the Type-1 diabetes Medical Condition to see other snps that influence your risk.
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rs9272346 has been reported in a large study to be associated with type-1 diabetes. The risk allele (oriented to the dbSNP entry) is (A); the odds ratio associated with heterozygotes is 5.49 (CI 4.83-6.24), and for homozygotes, 18.52 (CI 12.69-27.03). Note that the (A) allele is the most common in various human populations; instead of labeling (A) as a risk allele, we could consider the (G) allele protective. [PharmGKB:Curated GWAS results: Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci. (Initial Sample Size: 3,561 cases, 4,646 controls; Replication Sample Size: 6,225 cases, 6,946 controls, 3,064 trios); (Region: 6p21.32; Reported Gene(s): HLA; Risk Allele: rs9272346-G); (p-value= 6E-129).This variant is associated with Type 1 diabetes....
probably light-skinned, European ancestry This SNP influences skin pigmentation and indicates indicates light-skinned european ancestry. estimates that the rs1426654(A) allele (light skin pigmentation), spread through the European population around 6,000 - 12,000 years ago. Prior to that, 'European ancestors' were most likely relatively brown-skinned.
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This SNP influences skin pigmentation. The allele p.A111T, rs1426654(A), indicates light-skinned european ancestry. It appears as if this SNP is a relatively new one in human evolution; one estimate is that the rs1426654(A) allele, in other words, light skin pigmentation, spread through the European population around 6,000 - 12,000 years ago. Prior to that, 'European ancestors' were most likely relatively brown-skinned. This SNP is one of three from the SLC24A5 gene that can be analyzed to categorize the ancestry of a person as either European, African, or Asian, based on a 2009 study. The 3 SNPs are: * rs1426654 * rs2555364 * rs16960620 [OMIM:SOLUTE CARRIER FAMILY 24 (SODIUM/POTASSIUM/CALCIUM EXCHANGER), MEMBER]
Magnitude: 2.5
77% of Europeans with this genoset are lactose intolerant It is detected by 2 genotypes *rs4988235(C;C) *rs182549(C;C)
Magnitude: 2.5
You appear to have a common genotype in the gene CYP1A2 which metabolizes coffee more slowly than some other forms. The same amount of caffeine will tend to have more stimulating effect on slow metabolizers than on fast metabolizers.
Magnitude: 2.5
CYP2C9 poor metabolizers may require slightly different dosages for drugs such as tamoxifen, warfarin, fluvastin, and many nonsteroidal anti-inflammatory agents such as aspirin, ibuprofen and naproxen.
complex; generally higher risk for certain diseases
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This SNP in the tumor necrosis factor-alpha gene, rs1800629, is also known as the TNF-308 SNP. Occasionally the rs1800629(A) allele is referred to as 308.2 or TNF2, with the more common (G) allele being 308.1 or TNF1. The (A) allele is associated with higher levels of TNF expression. This SNP has been linked to a wide variety of conditions: * Allograft rejection ** Among 72 Polish patients receiving a kidney transplant, the risk of acute kidney allograft rejection was 2.5x higher among rs1800629(A) carriers compared to (G;G) homozygotes (CI: 1.19- 5.37, p<.05). * Asthma ** A meta-analysis of ~2,500 patients combined indicated that the rs1800629(A) allele was associated with a 1.46x increased risk for asthma. ** In a study of ~600 Mexican families and their asthmatic children, rs1800629(...
psoriasis risk for Chinese? This has no known affect among Caucasian populations, but in a Chinese population this genotype indicates a 22x risk of psoriasis. Source Nature research paper
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spittoon psoriasis Chinese *rs1265159(A) 22.62x risk Proxy SNP for rs1265181 Note that in dbSNP orientation, the risk allele for this SNP is rs1265159(T); also, see rs1265181 for more information.
CYP1A2 slow metabolizer more strongly affected by drinking coffee.
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rs762551, also known as -164A>C or -163C>A, is a SNP encoding the CYP1A2*1F allele of the CYP1A2 gene. For historic reasons, the rs762551(C) allele is considered the wild-type, even though it is the rarer allele in most populations. The rs762551(A) allele is the 'fast metabolizer' allele known as CYP1A2*1F; the (C) allele is by comparison a slower metabolizer of certain substrates (including caffeine). In terms of genotypes, only rs762551(A;A) individuals are considered fast metabolizers. Individuals who are rs762551(A;C) heterozygotes or rs762551(C;C) homozygotes are both considered slow metabolizers. The CYP1A2 gene encodes a member of the cytochrome p450 family of proteins, which metabolize nutrients and drugs. One well known substrate of CYP1A2 is caffeine; individuals who are ca...
3x higher risk for age-related macular degeneration
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rs5888 is a SNP in the scavenger receptor class B, member 1 SCARB1 gene. In a case-control study of two Caucasian populations totaling 2,498 patients, rs5888(C;T) heterozygotes had an increased odds ratio of 2.9 (CI: 1.6-5.3, p<0.002) for age-related macular degeneration (ARMD) based on a pooled analysis. Subgroup analysis indicated that the odds ratio for exudative forms of ARMD was even higher (3.6; CI: 1.7-7.6, p>0.0015) for rs5888(C;T) heterozygotes.
2.6x increased risk for sudden cardiac death in Caucasians
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rs16847548 and rs16856785 strongly associated with QT interval Based on a large study of 19,000+ adults, SNPs rs10494366, rs4657139 and rs16847548 were significantly associated with adjusted QT interval in whites but not in African-Americans. The relative hazard of sudden cardiac death (SCD) associated with each rs16847548(C) allele was 1.31 (CI: 1.10 - 1.56, p=0.002). rs12567209 was also independently associated with SCD in whites (relative hazard 0.57, CI: 0.39 - 0.83, p=0.003).
2.5x increased risk for type-2 diabetes
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rs5219, also known as E23K, is a SNP in the KCNJ11 gene. The association between type-1 diabetes and rs5219 is mentioned as being replicated in ; there is also a 90% correlation between rs5219 and rs5215. This SNP is one of 4 relatively common SNPs reported to represent risk for type-2 diabetes in the DESIR prospective study of 3,877 Caucasian participants. Under an additive model, the odds ratio for the minor (risk) allele (T) is 1.15 (CI: 0.95-1.4, p=0.2, ie not significant). But for the 4 SNPs, each risk allele increased type-2 diabetes risk by 1.34x (p=2x10e-6), with an odds ratio of 2.48 (CI: 1.59-3.86) for carriers of 4 or more compared to those with one or none (risk alleles). Genotyping of ~4000 Chinese as well a meta-analysis concluded that rs5219 was associated with type-2 diabet...
impaired motor skills learning? On a driving-based motor learning task subjects with this genotype showed greater error during short-term learning and poorer retention over 4 days, relative to subjects without the polymorphism. The presence of this BDNF polymorphism is associated with differences in brain motor system function, altered short-term plasticity, and greater error in short-term motor learning. Wired discusses the research as does spittoon. Alzheimer's disease risk for non ApoE4 carriers is affected by the heterozygous form of rs6265
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rs6265, also known as Val66Met, is a SNP in brain-derived neurotrophic factor BDNF gene. The more common G allele encodes the Val, while the A allele encodes Met. Met/A allele associated with introversion The A allele may also be protective against depression when subjected to repeated defeat g2b2mh blog On a driving-based motor learning task subjects with this genotype showed greater error during short-term learning and poorer retention over 4 days, relative to subjects without the polymorphism. The presence of this BDNF polymorphism is associated with differences in brain motor system function, altered short-term plasticity, and greater error in short-term motor learning. Wired discusses the research as does spittoon. Alzheimer's disease risk for non ApoE4 carriers is affected by the het...
> 2x risk of dyslexia and poor reading performance
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genetic risk for poor reading performance. Rs2143340, a SNP in the TTRAP gene, is in a region that crops up in several independent studies as likely to associated with dyslexia. The risk allele in the US/UK Caucasian populations studied is (C), and it is indicative of a risk haplotype found in ~18% of the general population but up to ~28% of severely dyslexic individuals. It is not thought that rs2143340 is a functional SNP; instead, it marks the haplotype known as rs4504469-rs2038137-rs2143340 '1-1-2' since the other two SNPs are the common forms whereas the significant form for rs2143340 is the rare form. The functional effect of this haplotype appears to be on the KIAA0319 gene, in that KIAA0319 gene activity associated with the 1-1-2 risk haplotype is 40% lower than for other haplotype...
Magnitude: 2.2
You have the genotype which is suspected of not responding to multivitamins in the article at http://www.nature.com/nm/journal/v16/n9/full/nm0910-953.html There is a study seeking participants with your genotype at http://diygenomics.pbworks.com/MTHFR
90% reduction in HIV viral load The rs9264942(C;C) genotype is reported to be associated with a 90% reduction in viral load in HIV-infected individuals. See also rs9264942 and HIV.
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This SNP (C/T) is in 5' region of the HLA-C gene, 35 kb away from transcription initiation in or around the HLA-C gene. 'People with this tiny sequence variation, dubbed rs9264942, appear to have up to 90% less virus in their systems than those who carry other polymorphisms. About 10% of Europeans appear to carry two copies of rs9264942, which leads to an average 90% viral load reduction. About 50% of Europeans carry one copy, which gives a 60% reduction. By comparison, less than 40% of people of African descent appear to carry a single copy of the polymorphism.' Genetic variation may lower HIV load by 90% They are referring to the (C;C) genotype giving a 90% reduction and the (C;T) giving a 60% reduction. dbSNP page This SNP is also reported to account for 6.5% of the 15% variation in vir...
apparently more prone to alcoholism interacts with the medicine Finasteride
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This SNP in the GABRA2 gene has been linked to Alcoholism. The effect of this SNP, a synonymous change at amino acid residue 132, is unknown, but it does not change the GABRA2 protein sequence. Carriers of at least one rs279858(G) allele respond slower to the effects of alcohol and are thereby apparently more prone to alcoholism than carriers of two rs279858(A) alleles. Finasteride, an FDA approved drug for the treatment of benign prostatic hypertrophy and a modulator of GABRA2, was shown to have more of a blocking effect on rs279858(A) homozygotes. Note that nearby SNPs have been grouped into a haplotype that shows statistically stronger association with alcohol dependence, namely the haplotype consisting of the rs279871(A) + rs279845(T) + rs279836(A) alleles . 1050 nicotine-dependent cas...
1.5x increased coronary artery disease risk; 2x increased periodontitis risk 2x increased risk of periodontitis and coronary heart disease as discussed at spittoon
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rs1333048 increases susceptibility to coronary artery disease 1.30 times for heterozygotes (AC) and 1.54 times for homozygotes (CC) rs1333048 2x risk for periodontitis and a confirmation of coronary heart disease spittoon [OMIM:?]
increased risk of gastric and bladder cancer
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rs2976392 and diffuse-type gastric cancer (allele-specific odds ratio (OR) = 1.62, 95% CI = 1.38-1.89, P = 1.11 x 10(-9)). Substitution of the C allele with the risk allele T at a SNP in the first exon (rs2294008, which has r(2) = 0.995, D' = 0.999 with rs2976392) reduces transcriptional activity of an upstream fragment of the gene [OMIM:PROSTATE STEM CELL ANTIGEN; PSCA] [GWAS:Bladder cancer]
increased risk for heart disease
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discussed in this blog post as possibly playing a role in coronary heart disease This SNP was also associated with increased risk for coronary artery disease in a Korean population. The association remained significant after adjusting for significant clinical covariates (P=0.001 to 0.024). We identified one risk haplotype (GGGG; P=0.017) and one protective haplotype (AAAA; P=0.007) for development of CAD. Further analysis suggested that the SNPs probably confer susceptibility to CAD in a dominance model (covariates-adjusted P=0.001 to 0.024; OR=2.37 to 1.54). Also found to be significant in a study of 416 Italian myocardial infarction patients. Found to be associated with coronary heart disease in a study of 1360 Chinese Han patients, with an odds ratio of 1.52 (CI: 1.13 - 2.04) for rs2383...
1.2x risk of prostate cancer 1.2x risk of prostate cancer
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rs6983267 is a SNP on chromosome 8q24, associated with increased risk for several cancers, particularly prostate cancer. In studies dividing the 8q24 region, this SNP falls in region 3. In a study of over 3,600 Caucasians with prostate cancer, rs6983267 is one of five SNPs used (with family history as a sixth factor) to cumulatively predict overall risk. On their own, the rs6983267(G;G) and (G;T) risk genotypes yield an odds ratio for developing prostate cancer of 1.37 (CI: 1.18-1.59, p=3.4-10e-5) and may account for 22.2% of population attributable risk. The increased risk of developing prostate cancer associated with rs6983267 now appears to be independent of the risk associated with its close neighbor, rs1447295. The odds ratio for heterozygotes is estimated to be 1.26 (CI: 1.13 - 1.41)...
0.63x decreased age-related macular degeneration risk
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news rs2511989 not associated with AMD rs2511989(A;A) had a protective effect against age related macular degeneration. Comparison of the rs2511989(A;G) genotype and the wild type (G;G) genotype yielded an odds ratio of 0.63 (CI: 0.47 to 0.84) for age-related macular degeneration. Comparison of rs2511989(A;A) homozygotes with (G;G) homozygotes resulted in an odds ratio of 0.44 (CI: 0.31 to 0.64). [PharmGKB:Curated A case-control study in a UK sample of 479 patients with age-related macular degeneration and 479 controls identified a highly significant association of this variant in intron six of the SERPING1 gene with age-related macular degeneration.]
reduced memory abilities
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In a Swiss cohort: 'Carriers of KIBRA rs17070145 T allele had 24% better free recall performance 5 min after word presentation (P = 0.000004) and 19% better free recall performance 24 hours after word presentation (P = 0.0008) than did noncarriers.' In a US cohort: 'T allele carriers had significantly better memory scores than non-carriers in the Buschke's Selective Reminding Test (SRT). Performance on another episodic memory task, the Rey Auditory Verbal Learning Test (AVLT), was also significantly different between allele groups.' In another Swiss cohort, with a visual episodic memory task: 'T allele carriers also performed significantly better than did noncarriers in this population.' 'Functional magnetic resonance imaging detected KIBRA allele-dependent differences in hippocampal activ...
1.2x risk of coronary artery disease
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rs599839 and rs4970834 explain about 1% of the variation in circulating LDL-cholesterol levels. 'When we look at this particular genetic variance, of all the cholesterol variation among the population, 1% of it can be attributed to this particular locus,' said Sandhu. 'This is equivalent to more established genes for LDL regulation, particularly APOE.' rs646776 also linked. spittoon coronary artery disease and heart attack SNP Risk Version Effect *rs646776 T 1.19 *rs17465637 C 1.14 *rs1746048 C 1.17 *rs6725887 C 1.17 *rs11206510 T 1.15 *rs3184504 T 1.13 *rs2306374 C 1.15 *rs3782886 C 1.44 [PharmGKB:Non-Curated Phenotype: In a GWAS, this SNP was significantly associated with plasma concentrations of apolipoprotein B and LDL-C . Study size:6382. Study population/ethnicity: Caucasian women. ...
mix of muscle types this genotype indicate somewhat impaired muscles
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This SNP, in the ACTN3 gene, encodes a premature stop codon in a muscle protein called alpha-actinin-3. The polymorphism alters position 577 of the alpha-actinin-3 protein. In the (C;C) genotype is often called RR. The truncated (T;T) is often called XX. (T;T) is under-represented in elite strength athletes, consistent with previous reports indicating that alpha-actinin-3 deficiency appears to impair muscle performance. The most common nucleotide at this position, (C), encodes an arginine (amino acid code R), the alternative T allele encodes a stop codon (X). Hence, the SNP is referred to as R577X, with homozygotes being either RR or XX and heterozygotes being RX. XX individuals completely lack the expression of alpha-actinin-3. An earlier report studying a relatively small number of Austr...
normal 1.6x risk of type-1 diabetes
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rs3129934 is a SNP near the HLA-class II region that may be associated with several autoimmune diseases. In a study of two cohorts (Spanish and American multiple sclerosis patients, each numbering several hundred), rs3129934 was the SNP most associated with increased risk for multiple sclerosis. The odds ratio was 3.3 (CI: 2.3 - 4.9, p = 9 x 10e-11). Seven other SNPs were also identified in this study as associated with increased risk for MS. associated with type-1 diabetes 23andMe uses rs9273363 instead of rs3129934 in its reports on type 1 diabetes risk. This SNP was formerly used as a proxy for rs9272346, with this explanation: 'Note: the 2007 Wellcome Trust paper reported a strong association between type 1 diabetes and the SNP rs9272346. Our quality control process flagged data for rs...
1.6x risk for MI
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This SNP, rs10757278, is one of several clustered together in a region of chromosome 9 that has been linked to increased risk for heart disease and potentially diabetes. The overall estimate of heart disease cases that may involve this SNP (or related ones nearby) is said to be 20-30%. The risk allele, rs10757278(G), shows an increased association for myocardial infarctions ('MI'; heart attacks) both in general and more specifically in so-called early onset MI. The odds ratio relative to rs10757278(A:A) 'noncarrier' individuals for rs10757278(G;G) individuals is 1.64 (CI: 1.47-1.82), and for carriers of one risk allele, i.e. rs10757278(A;G) individuals, 1.26 (CI: 1.16-1.36). For early onset MI, the odds are slightly higher; homozygote rs10757278(G;G) individuals have an odds ratio of 2.02 ...
happier, less sensitive to pain less sensitive to pain
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The minor allele (G) of rs25531 is almost always in phase with the long (L) allele of the 5-HTTLPR, which is the most commonly studied variation in this region. The (L) long allele may be associated with lower levels of serotonin. The article and video from 'The Atlantic' suggests that children with the short allele (A), may need and benefit greatly from more maternal support *http://www.theatlantic.com/doc/200912/dobbs-orchid-gene In contrast to earlier reports linking rs25531, a SNP in the serotonin transporter SLC6A4 gene, to obsessive compulsive disorder (OCD), a March 2007 publication finds no significant association studying 'the largest sample size of OCD patients (N=347) and controls (N=749) ever investigated'. A separate study of 75 patients suffering mood disorders after traumati...
if a smoker, somewhat more likely to develop COPD if a smoker, somewhat more likely to develop COPD
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rs543749, also known as IVS21_22 or V-1, is a SNP in the ADAM metallopeptidase domain 33 ADAM33 gene. A study of ~600 non-Hispanic white males who smoked concluded that rs543749(G;G) carriers, i.e. those homozygous for the most common allele, were more likely (p< 0.0026, after Bonferroni correction) to develop chronic obstructive pulmonary disease (COPD) than carriers of one or two rs543749(T) alleles.
significantly higher anxiety levels after moderate caffeine consumption
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Variation at this SNP, rs5751876, also referred to as 1976C>T or 1976T>C, appears to influence how an individual responds to moderate levels (150mg) of caffeine, with T/T carriers displaying significantly increased subjective levels of anxiety after consumption. rs5751876 is not associated with how much coffee one drinks, though, nor with risk for Parkinson's disease, based on a study of 1,200 subjects.
warfarin sensitivity (~2.5 mg/day)
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rs8050894, is located on chromosome 16 in the gene VKORC1. VKORC1 is the primary target of the drug warfarin (Coumadin), a commonly used oral anticoagulant. rs8050894 is one of several polymorphisms found in VKORC1 that is associated with specific warfarin doses (). Other polymorphisms in VKORC1 (rs7196161, rs9923231, rs9934438, rs2359612) are equally predictive of warfarin dose requirement in both European and Asian-descent individuals. Other polymorphisms found in the gene cytochrome P450 2C9 (CYP2C9) influence the metabolism of warfarin and have a smaller effect on warfarin dose. These polymorphisms are rs1799853 (CYP2C9*2) and rs1057910 (CYP2C9*3). In several hundred Europeans, no association was found between rs8050894 and risk for ischemic stroke. [PharmGKB:Curated This SNP is the t...
Magnitude: 2
possibly type A blood according to the ABO blood group types. From a molecular point of view, there are 2 A types: AA, and AO, based on whether the individual is carrying two type A alleles or one type A allele plus one type O allele.
Magnitude: 2
CYP2D6*2 normal metabolism
Magnitude: 2
This genoset looks for the genotypes which most strongly contribute to the risk of myocardial infarction according to http://www3.interscience.wiley.com/cgi-bin/fulltext/123217456/HTMLSTART These are *rs10116277 *rs599839 *rs1746048 *rs17465637 *rs9818870 *rs12526453 *rs3184504 *rs9982601 *rs6725887
Magnitude: 2
All available markers match for Haplogroup R (Y-DNA). This haplogroup has subclades under it. The most specific subclade match is the most significant. Haplogroup R (Y-DNA) represents one of two major European Y chromosome haplogroups (the other major haplogroup is Haplogroup I (Y-DNA)). The majority of European Y chromosomes belong to Haplogroup R (Y-DNA). Haplogroup R (Y-DNA) is now defined by eight mutations: * M207 = rs2032658(G) * M306 = rs1558843(A) * P224 = rs17307398(T) * P227 = rs4481791(C) * P232 = rs9786261(A) * P280 = rs891407(G) * P285 = rs17249974(A) In contrast to gs196 all available markers must agree, so a single no-call will prevent this from being recognized. This may be overly strict, and further generalizations for other testing platforms may be warranted. To prevent f...
Magnitude: 2
Those with one copy of this haplotype will likely have somewhat reduced levels of tetrahydrobiopterin. GCH1 haplotype determines vascular and plasma biopterin availability in coronary artery disease effects on vascular superoxide production and endothelial function. The haplotype rs10483639(C)-rs3783641(A)-rs8007267(T) is associated with lower levels of tetrahydrobiopterin.
~2x higher risk of atrial fibrillation
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news atrial fibrillation rs13376333 in KCNN3, with an odds ratio (OR) of 1.5 per copy of rs13376333(T); CI: 1.401.64, p = 1.83 10e-21. spitoon [PharmGKB:Curated Risk or phenotype-associated allele: T . Phenotype: This variant is associated with lone atrial fibrillation. Study size: 1,335 cases; 12,844 referants. Study population/ethnicity: Cases-German AF Network, Heart and Vascular Health Study, the Cleveland Clinic and Massachusetts General Hospital. Significance metric(s): overall combined odds ratio = 1.52, 95% CI 1.40-1.64, P = 1.83 x 10(-21) . Type of association: CO;GN] [OMIM:?] [GWAS:Atrial fibrillation]
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risk of the development of substance dependence significantly increased with the number of 'G' alleles at rs6454674 and SNP8;T/T genotypes had significant interaction effects (p = .0003 for comorbid DD and AD, .0002 for DD, and .007 for AD). SNP3 and SNP8 together exerted stronger genetic effects on SD than either did individually. The peak delta values among all the markers were seen for SNP3 and SNP8 (rs806368) rs806368(C) together with rs1049353(A) or rs1049353(G) make up a haplotype associated with PTSD, with the C-A haplotype somewhat associated (p=0.04) with higher risk of PTSD and the C-G haplotype associated (p=0.01) with a lower risk of PTSD.
~0.8cm taller
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nature SNP rs1042725 is associated with height (P = 4E-8) in a study involving over 20,000 individuals. The gene harboring this SNP, HMGA2, is a strong biological candidate for having an influence on height, since rare, severe mutations in this gene are known to alter body size in mice and humans. rs1042725 is estimated to explain approx 0.3% of population variation in height in both adults and children (approx 0.4 cm increased adult height per C allele). rs1042725 is associated with increased height (0.36 cm 95% IC[0.12-0.61] per C allele, P=0.004). in men rs1042725 may explain 3% of height variability [PharmGKB:Non-Curated GWAS Results: A common variant of HMGA2 is associated with adult and childhood height in the general population (Initial Sample Size: 4,921 individuals; Replication S...
2x-3x increased risk for Crohn's disease in Caucasians
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rs2241880, a SNP in the ATG16L1 gene encoding a threonine to alanine substitution ('T300A') in a protein known to be involved in the function of the epithelial cells lining the intestine, has been associated with Crohn's disease in several recent studies. In another recent (2007) report, rs2241880 is confirmed to be associated with both Crohn's disease and ileal disease, but additionally, the authors calculate risk for individuals who are homozygotes for this SNP plus 2 others (in the IBD5 and NOD2 genes). Individuals homozygous for the risk alleles for all 3 of these SNPs are estimated to be at 20 fold higher risk (CI ~9-49) for Crohn's disease. From the largest most recent survey, the Crohn's disease-associated SNPs for IBD5 and NOD2 are, respectively, rs6596075 and rs17221417. associate...
1.26x higher risk of aggressive form of prostate cancer The (T;T) genotype does not indicate a higher risk of prostate cancer. It indicates that those with prostate cancer have a 26% higher chance of having the aggressive form which requires more aggressive treatment.
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rs4054823 is a SNP in chromosomal region 17p12. This SNP is associated with risk of aggressive prostate cancer. Most prostate cancers proceed slowly and can be successfully treated even if not detected early. A subset of prostate cancers are an aggressive form which is harder to treat, especially if not detected early. The aggressive form of prostate cancer accounts for an estimated 27,000 deaths annually in the US. A study of 4,829 and 12,205 patients with more and less aggressive disease, respectively, found that the frequency of rs4054823(T;T) was consistently higher among patients with more aggressive compared with less aggressive disease in each of the seven populations studied (overall p = 2.1 x 10e-8). This is not a predictor of increased risk of prostate cancer. Instead, those who ...
lower warfarin dosing
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rs2108622 is a SNP in the cytochrome P450, family 4, subfamily F, polypeptide 2 CYP4F2 gene. In the males rs2108622(G) was significantly higher in cerebral infarction patients (P = 0.025) A study of Italian patients concluded that rs2108622(T;T) patients require 5.49 mg/day of warfarin versus 2.93 mg/day for (C;C) patients. Analysis of variance indicates that about 7% of mean weekly warfarin dose variance is explained by CYP4F2 genotype. A study of 370 Brazilian ('admixed') patients concludes that prospective CYP4F2 genotyping is of little value to these patients, presumably due to ethnic-based differences. [PharmGKB:Curated Risk or phenotype-associated allele: no allelic association. Phenotype: Improved pharmacogenetic algorithm-based warfarin dosing. Study size: 370. Study population/et...
1.3x increased risk of lung cancer
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rs1051730, also known as D398N, is a SNP in the nicotinic acetylcholine receptor alpha 3 subunit CHRNA3 gene. In two recent (2008) studies, together comprising over 6,000 lung cancer patients of European ancestry, the rs1051730(T) allele was very significiantly associated with increased risk. Having one copy (i.e. being a rs1051730(C;T) genotype) increased risk for lung cancer about 1.3x, and having two copies (rs1051730(T;T) individuals) represented 1.8x increased risk. Up to 14% of lung cancer incidence may be attributable to this allele. An independent study published at the same time concluded that (T) allele carriers for SNP rs1051730 are not at higher risk of becoming smokers compared to (C) carriers. However, if they do smoke, (T) carriers are quite likely to smoke more cigarettes t...
1.2x higher risk for hypertension
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rs6997709 has been reported in a large study to be associated with high blood pressure. The risk allele (oriented to the dbSNP entry) is (G); the odds ratio associated with heterozygotes is 1.20 (CI 0.94-1.52), and for homozygotes, 1.49 (CI 1.18-1.89). In a study of 7,551 Koreans, this SNP was associated with systolic and diastolic blood pressures in a quantitative trait association test but no associations were found using a case-control association test.
increased risk of exercise induced ischemia
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rs1024611, also known as the -2578A>G SNP due to its position in the promoter of the monocyte chemoattractant protein-1 MCP-1 CCL2 gene, influences the production of its corresponding protein, a chemokine involved in inflammatory responses. In a study focusing on 679 apparently healthy siblings of people with premature heart disease, investigators found that carriers of an rs1024611(C) allele - oriented as in dbSNP, not as published - independently predicted the risk of exercise induced ischemia in general. The odds ratio was reported to be 1.86 (CI: 1.14-3.04, p=0.014), regardless of race, age, sex and other factors. However, it is not clear if this risk carries over to individuals who lack siblings with heart disease. discussed in the spittoon as being relevant to HIV rs1024611 is not...
1.3x risk of narcolepsy compared to (A;G) genotype
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Common variants in P2RY11 are associated with narcolepsy. Found that rs2305795 G allele appears to lower the risk of narcolepsy. This SNP is also in the intronal area of the EIF3G gene.
1.7x increased risk for prostate cancer
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rs10086908 is a SNP in the 8q24 chromosomal region, which has been linked in several studies to prostate cancer. In a study of 1,563 patients of European ancestry, rs10086908 was designated as the representative of a prostate cancer risk region termed 'locus 3', with an odds ratio of 1.70 (CI: 1.39-2.07) for carriers of a risk genotype. Two other regions of chromosome 8q24 were also studied.
associated with higher HDL cholesterol
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G allele is associated with 4.12mg/dl increase in HDL cholesterol (good cholesterol). [GWAS:HDL cholesterol]
3x risk
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rs4129148, located near the CSF2RA gene, has been reported in a whole genome association study to be associated with schizophrenia. The risk allele (oriented to the dbSNP entry) is (G); the odds ratio associated with this allele is 3.23 (CI 2.04 - 5.15). [GWAS:Schizophrenia]
1.45 ng/mL lower Vitamin B6 blood concentration
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[PharmGKB:Non-Curated The C allele of this SNP is associated with lower blood concentration of vitamin B6 (Combined studies of Tuscan Italians ( inCHIANTI:N =1175 and Progetto Nutrizione study:N = 687) found 1.45 ng/mL lower vitamin B6 per copy of C (p = 8.3 x 10 (-18)))] [OMIM:?] [GWAS:Folate pathway vitamins]
associated with higher HDL cholesterol
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T allele is associated with 3.47mg/dl increase in HDL cholesterol (good cholesterol). [PharmGKB:Non-Curated Phenotype: In a GWAS, this SNP was significantly associated with plasma concentrations of HDL-C and apolipoprotein A1. Study size: 6382. Study population/ethnicity: Caucasian women. Significance metric(s): HDL-C: p = 1.0 x 10 (-41);ApoA1: p = 1.1 x 10(-34). Type of association: CO; GN] [OMIM:?] [GWAS:HDL cholesterol]
1.2x increased risk for type-2 diabetes
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rs4402960 replicated as significant for type-2 diabetes risk in 1,900 Japanese patients, with odds ratio of 1.23 (CI: 1.11-1.36, p = 8.1 x 10e-5) associated with type-2 diabetes significantly associated with type-2 diabetes p = 0.00009; in 1,630 Japanese subjects and in 1,064 controls 1,638 type-2 diabetes patients and 1,858 controls *rs4402960 borderline (OR 1.10, 95% CI: 0.99-1.22). Neither rs4402960 or rs1470579 were found to be associated with type-2 diabetes in a study of 3,000 French Caucasians. This SNP was confirmed to be associated with type-2 diabetes in a study of 500+ Japanese patients plus pooled meta-analysis with 6 previous association studies (also of Japanese). Note: rs4402960 is fairly tightly linked (r<sup>2</sup>=0.87) with another IGF2BP2 gene SNP also asso...
increased anxiety in response to caffeine associated with increased anxiety in response to caffeine
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Variation at this SNP, rs2298383, appears to influence how an individual responds to moderate levels (150mg) of caffeine. [PharmGKB:Curated Risk or phenotype-associated allele: rs2298383 T allele. Phenotype: Carriers of 1 or 2 copies of the T allele for rs2298383 showed increased risk of any (OR = 2.23, CI 1.03-5.07, p = 0.03) or gastrointestinal-specific (OR = 2.65, CI = 0.8-11.35, p = 0.09) adverse events. Study size: 309 RA patients, including 147 good MTX responders, 101 MTX inefficacy failures, and 61 adverse event (AE) MTX failures (e.g. gastrointestinal (n = 24), abnormal liver function tests (n = 20), haematological (n = 7), skin rashes (n = 6), and other (n = 17). Study population/ethnicity: Rheumatoid arthritis (RA) patients aged over 18 yrs, of White Caucasian ethnic origin, cl...
straighter hair
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rs499697 the minor, derived allele is associated with curlier hair curl, 0.13 points per G. [GWAS:Common traits (Other)]
impaired cognitive ability impaired cognitive ability
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g2b2mh blog In a population of healthy individuals, those that carry common variants (such as rs760761, rs1018381, rs2619522) located in the dysbindin (DTNBP1) gene, a risk factor for schizophrenia, show minor cognitive impairments such as decreased attentional capacity, worse performance on memory tasks, and alterations in schizotypal beliefs and experiences. [OMIM:DYSTROBREVIN-BINDING PROTEIN 1; DTNBP1]
~4x higher risk for hyperuracemia
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rs7442295 is a SNP in the SLC2A9 gene; this gene encodes a glucose transporter. Based on an initial study of 1900+ hypertensive Caucasian Europeans, the more common allele rs7442295(A) allele was associated with higher serum urate and hyperuracemia (defined as urate >0.4 mMol/l), with a reported odds ratio of 1.89 (CI: 1.36-2.61, p=5 x 10<sup>-5</sup>). This was also seen in an associated meta-analysis conducted with a broadly representative population and using a surrogate SNP, rs6449213, which is in fairly tight linkage (r<sup>2</sup>=0.88) with rs7442295. To put it another way, 79% of white Europeans carry one or two alleles leading to higher serum urate levels. Each copy leads to an average increase of 0.02mMol/l, and, an ~doubling of risk for hyperuracemia. ...
1.3x risk
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rs17672135 has been reported in a large study to be associated with heart disease, in particular, coronary artery disease. The risk allele (oriented to the dbSNP entry) is (T); the odds ratio associated with heterozygotes is 0.70 (CI 0.61-0.81), and for homozygotes, 1.32 (CI 0.79-2.22). [PharmGKB:Non-Curated GWAS Results: Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls (Initial Sample Size: 1,926 cases, 2,938 controls; Replication Sample Size: (see Samani 2007); Risk Allele: rs17672135-C). This variant is associated with coronary disease.] [GWAS:Coronary disease]
2-4x higher risk of sun sensitivity if part of risk haplotype
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rs1015362 is a SNP near the ASIP (agouti signaling protein) gene on chromosome 20. This SNP is one of a tightly-linked pair that increases the likelihood of an individual being prone to sun sensitivity, in other words, freckles and sunburn, based on a study of 6,000+ Caucasians (5,000+ Icelanders + 1,000+ Dutch). The odds ratios, presumably on a dominant basis, and at least in the largest population (Icelanders) for 'freckles and burns vs. no freckles and tans' for the haplotype pair rs1015362(G) - rs4911414(T) is 3.91 (CI: 2.54-6.03) for males and 2.42 (CI: 1.52-3.86) for females, with an overall p=0.051. Based on a study by the same authors of 4,000+ skin cancer patients, this haplotype was seen to confer significant increased risk for cutaneous malignant melanoma (odds ratio 1.45, p = 1...
1.4x risk 1.4x higher risk for coronary artery disease
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rs7250581 has been reported in a large study to be associated with heart disease, in particular, coronary artery disease. The risk allele (oriented to the dbSNP entry) is (G); the odds ratio associated with heterozygotes is 1.06 (CI 0.79-1.43), and for homozygotes, 1.40 (CI 1.05-1.86).
less likely to go bald less likely to experience baldness before age 40
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male-pattern baldness. Full text available. *G less likely to go bald before age 40 *A more likely to go bald before age 40
Increased risk for Crohn's Disease
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[PharmGKB:Non-Curated GWAS results: Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci (Initial Sample Size: 382 trios; Replication Sample Size: 521 trios, 750 cases, 828 controls). This variant is associated with Crohn's disease. This variant is associated with Crohn's disease.] [GWAS:Crohn's disease]
2.6x increased risk for ARMD
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rs3025039, also known as the +936C/T SNP in the VEGFA gene, has been associated with age-related macular degeneration (ARMD). A study of 190 Taiwanese patients with late wet age related macular degeneration found that the rs3025039(T) allele was associated with increased risk, with an odds ratio of 2.61 (CI: 1.68 to 4.07, p = 1.45 x 10e-5). Note that this association may be completely due to the tight linkage (D' = 0.99) between this SNP and rs1061170, which has been reported by numerous studies to be associated with ARMD. C->T was associated with increased risk for altitude sickness. [PharmGKB:Curated This SNP was not associated with risk of non-small cell lung cancer.]
3.5x risk of hep-cancer in cirrhosis patients; higher glioma risk
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rs4444903 is a SNP, also known as +61, located in the promoter region of the epidermal growth factor EGF gene that influences the amount of EGF produced. The rs4444903(G) allele appears to produce higher amounts of EGF than the (A) allele. A study of 2 Caucasian populations of patients with alcoholic cirrhosis indicates that, for these patients, the presence of the risk allele rs4444903(G) increases the chances of developing hepatocellular carcinoma (liver cancer). After adjusting for age, sex, race, etiology, and severity of cirrhosis the number of (G) copies led to an odds ratio for either (G;G) or (A;G) genotypes versus the (A;A) genotype of 3.49 (CI: 1.29-9.44, p=.01). In another study, analysis of 197 glioma patients showed that the rs4444903(G) allele conferred higher risks for gliom...
straighter hair
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rs11803731, a SNP in the Trichohyalin gene (TCHH) gene, is estimated to account for 6% of the variance in hair morphology (ie hair curliness) based on a study of Australians of European ancestry. [OMIM:?] [GWAS:Hair morphology]
possibly increased risk of psoriasis One paper claims a 22x risk of psoriasis among Asians, with no effect on non-asians. However its an ambiguous flip on the minus strand, and occurs often among even the test genomes. Psoriasis doesn't seem to affect any of them so there is little reason to worry. But if you do have psoriasis and this genotype, please contact info@snpedia.com to discuss other neighboring snps on your platform.
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rs1265181 is a SNP in the HLA region of chromosome 6. A large study (>6,000 Chinese psoriasis patients and an equal number of controls) found a highly significant association between the minor rs1265181(G) allele and risk for psoriasis. A proxy for this allele is rs1265159(A). See also: spittoon psoriasis [PharmGKB:Non-Curated GWAS results: Psoriasis genome-wide association study identifies susceptibility variants within LCE gene cluster at 1q21. (Initial Sample Size: 1,139 Chinese cases, 1,132 Chinese controls; Replication Sample Size: 5,721 Chinese cases, 7,340 Chinese controls); (Region: 6p21.33; Reported Gene(s): MHC; Risk Allele: rs1265181-?); (p-value= NS).This variant is associated with Psoriasis.] [GWAS:Psoriasis]
higher scores on anxiety-related personality traits; greater placebo response One study of 25 people shows this genotype was a significant predictor of clinical placebo response, being associated with greater improvement in anxiety symptoms. This SNP has been linked to several psychiatric and/or behavioral phenomena, including: *higher scores on anxiety-related personality traits *obsessive compulsive disorder *panic disorder with a possible gender-dependent effect
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rs4570625, also known as G-703T, is a SNP in the tryptophan hydroxylase 2 TPH2 gene. This SNP has been linked to several psychiatric and/or behavioural phenomena, including: * rs4570625 and rs4565946 linked to the pathogenesis of early-onset obsessive compulsive disorder * rs4570625 and rs11178997 in TPH2's regulatory region display preferential transmission * rs4570625(G;G) homozygosity was a significant predictor of clinical placebo response, being associated with greater improvement in anxiety symptoms. g2b2mh is rs4570625(G;G) is a significant predictor of clinical placebo response? maybe not panic disorder with a possible gender-dependent effect [OMIM:TRYPTOPHAN HYDROXYLASE 2; TPH2]
Magnitude: 1.8
The haplotype A-A-G for SNPs rs3794808, rs140701 and rs4583306 has a 1.7x increased risk for panic disorder. However it seems quite common among the promethease reports.
>3x increased testicular cancer risk for men found in 65% of caucasians but linked 3x higher risk of testicular cancer than the (G;G) form.
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Testicular germ cell tumor risk I('TGCT'; i.e. testicular cancer risk) was increased 3x per copy of the major (A) allele at rs3782179 and rs4474514 (OR = 3.08, CI: 2.294.13; OR = 3.07, CI = 2.294.13, respectively), based on a genome-wide scan of 277 primarily Caucasian TGCT cases and 919 controls. Men who have two copies of the common version of the c-KIT ligand KITLG gene have a 4.5-fold higher risk of testicular cancer than men who have two copies of the less common or minor version of the gene. SNPs from the same gene were also implicated in testicular cancer risk in a study of 730 cases and 1,435 controls from the UK and replicating associations in a further 571 cases and 1,806 controls. [OMIM:?]
Magnitude: 1.7
Most non-Scandinavian Caucasians and approximately half of African-Americans are slow metabolizers. This variation is important because of its primary role in the deactivation of many chemicals in the body's environment, including those produced by caffeine and cigarettes as well as aromatic amine and hydrazine drugs used medicinally. In general, slow metabolizers have higher rates of certain types of cancer and are more susceptible to side effects from chemicals metabolized by NAT2. According to this source 6 snps determine NAT2 metabolism. The way their genotypes interact is very complex, which makes this one of the largest genosets in SNPedia. The SNPs are: *rs1208 *rs1041983 *rs1799929 *rs1799930 *rs1799931 *rs1801280
Magnitude: 1.7
suggests you may be able to tolerate more pain than most people. However phased data may be necessary to increase certainty. See also gs232 gs233 gs234 gs235
Magnitude: 1.7
suggests you may be able to tolerate less pain than most people. However phased data may be necessary to increase certainty. See also gs232 gs233 gs234 gs235
1.6x higher overall CYP3A activity
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rs1057868, also known as A503V, is a relatively common variant defining the POR*28 allele of the P450 (cytochrome) oxidoreductase POR gene. The POR gene encodes a protein involved in electron transport of cytochrome p450 enzymes such as CYP3A4, CYP3A5 and CYP3A7. A study of 251 individuals from two independent studies (182 patients treated with methadone and 69 patients with clozapine) for CYP3A activity found that CYP3A SNPs themselves did not predict particularly well inter-individual variability in overall CYP3A activity. However, rs1057868(T;T) individuals had a 1.6x increased CYP3A activity compared to rs1057868(C) carriers (n=182, p=0.004), and the finding was replicated in a second independent dataset. The authors conclude that this POR gene SNP is a better predictor of overall CYP3...
1.6x increased risk for Parkinson's disease
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rs356219, a tagging SNP in the SNCA gene for a Parkinson's disease associated haplotype, predicts the amount of SNCA (alpha-synuclein) mRNA found in post mortem substantia nigra and cerebellum brain tissue. replicates the association of rs356219 with late-onset Parkinson's disease, calculating an odds ratio of 1.3 (CI: 1.13 - 1.5, p=2x10e-4) per rs356219(G) allele among the 1145 patients from northern Spain studied. [OMIM:SYNUCLEIN, ALPHA; SNCA] [GWAS:None]
1.2 - 1.8x increased tuberculosis risk
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rs3764880 is a SNP in the TLR8 gene, located on the X chromosome. rs3764880 is also known as Met1Val. A study of both Indonesian and Russian tuberculosis patients (and controls) concluded that the minor (A) allele of rs3764880 was associated with increased risk for tuberculosis. In the Indonesian population of 375 patients, the odds ratio was 1.8 (CI: 1.22.7); in the Russian population of 1,837 patients, the odds ratio was 1.2 (CI: 1.021.48); the combined evidence for association was p = 1.210e?3 610e?4. Note that the association was found primarily in males (although also to a lesser extent in homozygous females), presumably due to the presence of only one X chromosome in males.
1.6x higher risk for diffuse gastric cancer
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rs2227692, also known as c.1162+162C>T, is a SNP in the SERPINE1 gene. A study of 612 Korean patients with gastric cancer concluded that the rs2227692 C/T and T/T genotypes had 1.6x greater risk for diffuse gastric cancer than the C/C genotype (p = .00084).
Magnitude: 1.5
Haplogroup H probably evolved in West Asia ~30k years ago and arrived to Europe 20-25k years ago, spreading rapidly to the southwest of the continent. About one half of Europeans are of mtDNA haplogroup H. The haplogroup is also common in North Africa and the Middle East. The majority of the European populations have an overall haplogroup H frequency of 40%50%. Frequencies decrease in the southeast of the continent, reaching 20% in the Near East and Caucasus, and <10% in the Persian Gulf, Northern India and Central Asia and up to the Northern reaches of Scandinavia. wikipedia provides more info. This is a mitochondrial haplogroup and a subclade of HV. haplograph provides this image *N **R ***R0 ****HV *****H
Magnitude: 1.5
15 point drop in blood pressure when taking the beta blocker metoprolol due to rs1801252(A;A) and rs1801253(C;C):
Magnitude: 1.5
An APOE3 allele was observed
slightly less likely to go bald decreased risk of baldness
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rs1385699, also known as Arg57Lys, is a SNP in the ectodysplasin A2 receptor EDAR2 gene. This gene is located on the X chromosome. The rs1385699(T) allele, which is the most common in European populations, was found to be associated with androgenetic alopecia in a case-control study of 400 males.
1.5x higher risk for emphysema, higher in smokers
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rs975278 is a SNP in the SERPINE2 gene. A study involving 1,335 consecutive autopsies of elderly Japanese people found emphysema of more than moderate degree in 189 subjects and among 12 examined SNPs, found that only rs975278 was positively associated (with emphysema).rs975278(A;A) individuals were associated with emphysema (odds ratio 1.54, CI: 1.02-2.30, p = 0.037) and the association was more prominent in smokers (odds ratio 2.02, CI: 1.29-3.15, p = 0.002).
increased risk of schizophrenia in limited study
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Associated with schizophrenia in a study of Croatians. Due to the limited number and diversity of the studied population, more study is needed to confirm any link. The T allele was associated with an increased risk of schizophrenia.
increased risk of schizophrenia in limited study
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Associated with schizophrenia in a study of Croatians. Due to the limited number and diversity of the studied population, more study is needed to confirm any link. The G allele was associated with an increased risk of schizophrenia.
0.85x decreased risk for Alzheimer's disease
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rs3851179 is a SNP upstream of the PICALM gene. A study of over 5,000 Alzheimer's disease patients (and over 10,000 controls) found a slight protective effect of the (A) allele of this SNP. rs3851179(A) carriers had a slightly decreased risk for Alzheimer's disease, with an odds ratio of 0.85 (CI: 0.8-0.9, p=1.9x10e-8). The association of this SNP and late-onset Alzheimer's disease was replicated over a total of another 1829 cases (and 2576 controls). [GWAS:Alzheimer's disease]
1.58x increased schizophrenia risk for women
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A total of 2,274 cases of schizophrenia were studied, resulting in an association between rs7341475, exclusively in women. Based on all populations the estimated relative risk for women carrying the common (G;G) genotype is 1.58 (p = 8.8 x 10(<sup>-7</sup>). This finding was replicated in a large independent Ashkenazi Jewish collection (721 cases, 259 female; 1455 controls, 834 female), with confirmation that it applies to both schizophrenia and schizoaffective disorder. [PharmGKB:Non-Curated GWAS results: Genome-Wide Association Identifies a Common Variant in the Reelin Gene That Increases the Risk of Schizophrenia Only in Women. (Initial Sample Size: 660 cases, 2,271 controls; Replication Sample Size: 2,274 cases, 4,401 controls); (Region: 7q22.1; Reported Gene(s): RELN; Ris...
57% of you can smell asparagus metabolites in urine
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Asparagus anosmia research was performed by 23andMe and presented at the 2009 ASHG according to geneticfuture. Asparagus anosmia [GWAS:Common traits (Other)]
associated with higher HDL cholesterol
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C allele is associated with 1.87mg/dl increase in HDL cholesterol (good cholesterol). [PharmGKB:Non-Curated GWAS results: Common variants at 30 loci contribute to polygenic dyslipidemia. (Initial Sample Size: 19,840 individuals; Replication Sample Size: Up to 20,623 individuals); (Region: 18q21.1; Reported Gene(s): LIPG; Risk Allele: rs4939883-T); (p-value= 0.000000000000007).This variant is associated with HDL cholesterol.] [GWAS:Cholesterol, total]
increased risk of schizophrenia in limited study
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Associated with schizophrenia in a study of Croatians. Due to the limited number and diversity of the studied population, more study is needed to confirm any link. The G allele was associated with a decreased risk of schizophrenia.
Carrier of at least one CYP2D6 variants (non-CYP2D6*1)
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rs1135840, also known as 4180G>C or S486T, is a SNP in the CYP2D6 gene. The wild type (normal) allele at this SNP is (G). The (C) variant indicates the presence of a non-wild type CYP2D6 variant, but it appears in many different variants so it can not be used to determine the presence of any particular variant. Please be careful when interpreting results for this SNP as it is in dbSNP and SNPedia in minus orientation where the risk allele is C, but test results are usually in plus orientation where the risk allele is G. This SNP has an ambiguous flip which can make this very confusing. [PharmGKB:Curated Risk or phenotype-associated allele: T. Phenotype: The CYP2D6*2A haplotype was associated with lower incidence of breast cancer on tamoxifen compared to placebo in a prevention study. T...
1.4x increased risk for ALS
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rs3849942 is one of 2 SNPs from the ch 9p21.2 region associated in a large GWAS study with ALS risk, the other SNP being rs2814707. In this study, the reported odds ratio for rs3849942(A) was 1.22 (CI: 1.15 - 1.30, p = 4.64 x 10e-10). The odds ratio for the minor rs3849942(A) allele was 1.15 (p=1.01x10e-8). From a study of 405 Finnish patients with ALS, rs3849942 was found within a 42 SNP haplotype associated with highly increased (p = 7 x 10e-33) risk when patients with familial ALS were compared to controls (odds ratio of 21.0, CI: 11.2-39.1). This haplotype overlapped with a region reported (by others) to associate with risk for frontotemporal dementia. In terms of population attributable risk, for the 93 patients with familial ALS, this 9p21 locus accounts for 38% and that of rs1304801...
1.4x increased risk for depression (for those under 55)
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rs1545843 is one of two linked SNPs potentially associated (at a distance though) with the SLC6A15 gene; the other is rs1031681. A GWAS study and meta-analysis ultimately including six independent samples, primarily Caucasion/European but also including an African-American sample, found that the rs1545843(A) allele was associated with higher risk for major depression, but only in individuals less than 55 years old and only when homozygous, with an odds ratio of 1.4 (p = 2 x 10e-8).
1.4x increased breast cancer risk
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rs2046210 is a SNP upstream of the estrogen receptor alpha ESR1 gene. A study of ~7,000 breast cancer cases among Chinese women concluded that rs2046210 was associated with increased risk for the disease; the odds ratio was 1.59 (CI: 1.4-1.82) and 1.36 (CI: 1.24-1.49) for homozygote and heterozygote carriers of a (T) allele (in dbSNP orientation), respectively. A pooled analysis of 31,000+ women found a positive association for rs2046210 and breast cancer risk in Chinese women (odds ratio 1.30, CI: 1.22-1.38, and 1.64, CI: 1.50-1.80, for the CT and TT genotypes (in dbSNP orientation), respectively, p(trend) = 1.54 10e-30), Japanese women (1.31, CI: 1.13-1.52, and 1.37, CI: 1.06-1.76, p(trend) = 2.51 10e-4), and European-ancestry American women (1.07, CI: 0.99-1.16, and 1.18, CI: 1.04-1...
1.4x higher risk for breast cancer
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rs1801157, also known as G801A, is a SNP in the chemokine (C-X-C motif) ligand 12 CXCL12 gene. rs1801157(A) was associated with protection against infection (OR=0.63, P=0.01). In the MACS cohort, rs1801157 was associated with AIDS-87 (RH=0.31, P=0.02) and with death (RH=0.18, P=0.02). HIV-1/AIDS A 2011 meta-analysis (comprising 5 studies totaling 1,058 cases) found that the rs1801157(A) allele was associated with higher risk for breast cancer, with an odds ratio of 1.44 (CI: 1.2 - 1.7; under a dominant model).
1.4x increased risk for schizophrenia
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spittoon schizophrenia *rs3131296(C) increased the odds of schizophrenia by 1.19x *rs12807809(T) increased the odds of schizophrenia by 1.15x *rs9960767(C) increased the odds of schizophrenia by 1.23 times. A study of ~2,500 Han Chinese patients with schizophrenia did find rs3131296 to be significantly associated in this population. [GWAS:Schizophrenia]
1.34x higher risk for myocardial infarction
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rs17465637 is a SNP found to be associated with heart disease by the German MI (Myocardial infarction) Family Study group This 2011 study concluded that the only MIA3 gene SNP to be associated with increased risk for myocardial infarction is rs17465637, with an odds ratio of 1.17 (CI: 1.04-1.32) and 1.37 (CI: 1.08-1.74) for carriers of one or two (C) alleles, respectively. spittoon coronary artery disease and heart attack SNP Risk Version Effect *rs646776 T 1.19 *rs17465637 C 1.14 *rs1746048 C 1.17 *rs6725887 C 1.17 *rs11206510 T 1.15 *rs3184504 T 1.13 *rs2306374 C 1.15 *rs3782886 C 1.44 [PharmGKB:Curated GWAS results: Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. (Initial Sample Size: 2,967 cases, 3,075 control...
1.3x increased risk for Crohn's disease
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rs13361189 is a SNP in the IRGM gene. A study including 557 Crohn's disease (CD) patients, 425 ulcerative colitis (UC) patients, and 672 ethnically matched Spanish controls as well as a meta-analysis concluded that rs13361189(C) was associated with CD (p=1.07 x 10(-19), pooled odds ratio 1.34) and UC (p=0.0069, pooled odds ratio 1.16). spittoon Each copy of a C at rs13361189 increases a person's risk of developing Crohn's disease 1.33 times compared to someone with two copies of a T [PharmGKB:Non-Curated GWAS results: Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility (Initial Sample Size: 1,748 cases, 2,938 controls; Replication Sample Size: 1,182 cases, 2,024 controls). This variant is associated with Crohn's dis...
1.3x increased risk for Crohn's disease
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rs4958847 is a SNP in the IRGM gene. A study of 507 CD patients, 475 UC patients and 576 controls from New Zealand Caucasians found that rs4958847, a SNP in the IRGM gene, was associated specifically with ileal Crohn's disease but not with other forms of inflammatory bowel disease. The reported odds ratio was 1.767, CI: 1.224-2.558, p=0.0022. Another study, including 557 Crohn's disease (CD) patients, 425 ulcerative colitis (UC) patients, and 672 ethnically matched Spanish controls as well as a meta-analysis concluded that rs4958847(A) was associated with CD (p=2.78 x 10(-17), pooled odds ratio 1.31) and UC (p=0.014, pooled odds ratio 1.13). [OMIM:IMMUNITY-RELATED GTPase FAMILY, M; IRGM]
1.29x increased breast cancer risk
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rs1434536 is a SNP reported to potentially represent a miR-125b binding site. A study of 459 probands from a breast cancer affected sibling pair cohort were recruited from the ECOG study, and in conjunction with 1,145 patient samples from the CGEMS study, led to the conclusion that rs1434536 was associated with increased risk for breast cancer. The odds ratios for rs1434536(A;G) and (A;A) individuals were 1.29 (CI: 0.95-1.74) and 1.94 (CI: 1.40-2.71), respectively (p=1.6x10e-4).
1.3x increased risk for osteoarthritis
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rs10947262(C) was found to be associated with increased risk for osteoarthritis among Japanese and Europeans, with an odds ratio of 1.32 (CI: 1.19-1.46, combined p = 6.7310e-8). This SNP is also in linkage disequilibrium with rs7775228, which was found to be associated in Japanese with osteoarthritis. [GWAS:Knee osteoarthritis]
slightly increased risk (1.25) for lung cancer
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In a GWAS dataset of 1,447 lung cancer cases, and then replicated in another 1300 cases, the rs748404(T) allele was significantly correlated with increased risk (odds ratio 1.15, p = 1.1 10e-9), in agreement with a previous meta-analysis.
Magnitude: 1.2
normal tasting ability for bitterness
>1.2x increased risk for ALS
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rs2814707 is one of 2 SNPs from the ch 9p21.2 region associated in a large GWAS study with ALS risk, the other SNP being rs3849942. In this study, the reported odds ratio for rs2814707(A) was 1.22 (CI: 1.15 - 1.30, p = 4.72 x 10e-10). The odds ratio for the minor rs2814707(A) allele was 1.16 (p=7.45x10e-9). spittoon rs2814707(T) 1.16x odds of ALS rs12608932(C) 1.2x odds of ALS [PharmGKB:Curated This variant is significantly associated with the efficacy of anti-TNF treatment in rheumatoid arthritis (Adjusted P-value: 0.000002; OR: 5.2 (1.8, 16.7)). The study is a genome-wide association study using the Illumina HapMap300 SNP chip on 89 RA patients prospectively followed after beginning of anti-TNF therapy.] [OMIM:?]
For type-1 diabetics, 1.6x increased nephropathy risk
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rs4496877 is a SNP near the NOS3 gene. Several Type-1 diabetes patients pools, totaling over 2,000 patients, plus a meta-analysis were involved in a study concluding that in such patients, the rs4496877 was associated with higher risk for nephropathy. The odds ratio associated with rs4496877(T) was 1.26 (p = 0.002, CI: 1.08-1.47). A proxy for this SNP (pairwise linkage of 0.96) is rs1800783.
1.2x increased risk for ovarian cancer
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rs2072590 is a SNP on chromosome 2q31, in a noncoding region ~5 kb distal to the HOXD3 gene and ~10 kb proximal to HOXD1. A genome-wide association study ultimately including over 10,000 ovarian cancer patients found statistically strong (p = 3.8 10e?14) evidence for slightly elevated risk associated with the rs2072590(T) allele, with an odds ratio of 1.20 (CI: 1.141.25) as calculated for the serous subtype (of ovarian cancer), though it was significant for the other subtypes as well. [GWAS:None]
normal
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Testicular germ cell tumor risk I('TGCT'; i.e. testicular cancer risk) was increased 40% per copy of the major (T) allele at rs4324715 and rs6897876 (OR = 1.37, CI: 1.141.64; OR = 1.39, CI: 1.161.66, respectively), based on a genome-wide scan of 277 primarily Caucasian TGCT cases and 919 controls. Men who have two copies of the common version of the sprouty 4 SPRY4 gene have a 1.5-fold higher risk of testicular cancer than men who have two copies of the less common or minor version of the gene. [doi|10.1038/ng.393]
1.2x increased risk for schizophrenia
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spittoon schizophrenia *rs3131296(C) increased the odds of schizophrenia by 1.19x *rs12807809(T) increased the odds of schizophrenia by 1.15x *rs9960767(C) increased the odds of schizophrenia by 1.23 times. [OMIM:?] [GWAS:Schizophrenia]
1.2x higher risk for ankylosing spondylitis
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rs10865331 is a SNP in chromosomal region 2p15. After initial GWAS reports linked this SNP to ankylosing spondylitis (AS), a follow-up study in 456 Spanish patients replicated the association between the rs10865331(A) allele and higher risk for AS (p = 0.039). In a 2010 report, the AA genotype was associated with 1.3x odds of ankylosing spondylitis, and the GG genotype with 0.8x odds, compared to the AG genotype. [OMIM:?] [GWAS:Ankylosing spondylitis]
1.2x increased risk for schizophrenia
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rs1344706 is a SNP in the ZNF804A gene, and it is probably the first SNP to have been reported as achieving genome-wide significance for psychosis. Reviews the literature, and concludes that rs1344706 is 'robustly, if modestly' associated with increased risk for schizophrenia. A genome-wide association study of schizophrenia (479 cases, 2,937 controls) followed by additional testing and a meta-analysis concluded that the strongest evidence for association was around ZNF804A (rs1344706; p = 1.61 x 10e-7) and that the finding was strengthened when the affected phenotype included bipolar disorder (p = 9.96 x 10e-9). [PharmGKB:Non-Curated Rs1344706, found in a separate GWAS to be associated with schizophrenia, was investigated here by Functional Magnetic Resonance Imaging. In 115 healthy Germ...
more likely to go bald more likely to go bald
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Along with rs201571 serves as a proxy for rs1160312. related to baldness
1.1x increased risk for osteoarthritis
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rs143383 showed significant association with hip osteoarthritis in two independent Japanese populations. It also showed association with knee osteoarthritis in Japanese and Chinese populations. is *not* a risk factor for osteoarthritis in Greek Caucasians A subsequent study showed that the same risk allele, rs143383(T), was (somewhat) associated with osteoarthritis in European populations. The odds ratio was 1.10 for the allele, 1.28 for carrier status (p=0.03, p=0.004, respectively). The (T) allele appears to make less GDF5 protein, which eventually renders an individual somewhat more susceptible to osteoarthritis. A meta-analysis combining data from 11,000+ individuals as well as both European and Asian populations found strong evidence (p < 0.0004) confirming increased risk for osteo...
1.2x increased risk for prostate cancer
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rs351855, a SNP in the fibroblast growth factor receptor 4 (FGFR4) gene, is also known as the Gly388Arg variant. The rs351855(T) allele encodes the risk (Arg) allele. The Arg form of this SNP is likely to cause a harder to treat version of node-positive breast cancer, including reducing the efficacy of Herceptin, based on a study of 372 patients. A study of ~500 Japanese prostate cancer patients found that individuals with a rs351855(T;T) genotype had a 2.2- and 1.9-fold increased risk of prostate cancer and benign prostate hyperplasia (BPH), and a 1.8-fold increased risk of metastatic prostate cancer compared to the (C;C) genotype. A meta-analysis published in 2011, surveying a total of 2,618 cases of prostate cancer, concluded that the odds ratio per rs351855(T) allele was 1.17 (CI: 1.07...
1.1x higher risk for migraines
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rs2651899 is a SNP on ch 1p36.32 in the PRDM16 gene. A large GWAS study of over 5,000 patients with migraines and a meta-analysis concluded that this SNP was one of three influencing the condition, albeit with only slight risk increases on its own. The odds ratio for the slightly rarer rs2651899(G) allele was 1.11 (CI: 1.07 - 1.15, p = 3.8 x 10e-9).
1.12x increased risk for breast cancer
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rs13387042(A;A) has an estimated 1.44-fold greater risk of breast cancer than the GG genotype. This initial association was later tested among patients in the Breast Cancer Association Consortium, including 31,510 women with invasive breast cancer, 1101 women with ductal carcinoma in situ (DCIS), and 35,969 controls. In Caucasian women of European origin, each A allele is associated with 1.12 higher odds (CI: 1.09-1.15). This association held regardless of ER or PR status. [PharmGKB:Non-Curated GWAS results: A multistage genome-wide association study in Breast Cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1). (Initial Sample Size: 1,145 cases, 1,142 controls; Replication Sample Size: 8,625 cases, 9,657 controls); (Region: 2q35; Reported Gene(s): Intergenic; Risk Alle...
0.9x lower risk for migraines
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rs11172113 is a SNP on ch 12q13.3 in the LRP1 gene. A large GWAS study of over 5,000 patients with migraines and a meta-analysis concluded that this SNP was one of three influencing the condition, albeit with only slight risk changes on its own. The odds ratio for the less common rs11172113(C) allele was 0.9 (CI: 0.87 - 0.93, p = 4.3 x 10e-9).
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SNPs in the SNAP25 gene were initially linked to intelligence but have failed to replicate . While now suspect, the original work can be found in . The (A;A) genotype averaged 2.84 PIQ points higher than the (A;G) genotype, which averages 2.8 PIQ points higher than the (G;G) genotype (p=0.0002). Variance in this SNP may account for 3.4% of the phenotypic variance in PIQ. rs363050 is in close linkage with rs353016, with r2 = 0.98, such that the rs363050(A) allele typically is linked to the rs353016(T) allele. For SNPs rs363039 - rs363043 - rs353016, respectively, the haplotype C-T-T is most associated with higher intelligence in children, whereas the haplotype C-C-T is most associated in adults (SNPs oriented as in dbSNP).
1.18x higher risk for breast cancer
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rs997669 shows an association with breast cancer in a British study involving ~2300 patients. The odds ratio for the (G;G) vs (A;A) homozygotes is 1.18 (CI: 1.04-1.34, p=0.003).
possibly lactose intolerant see also gs100 if you are a caucasian who also has rs182549(C;C) there is 77% chance of lactose intolerance * See also OMIM 601806.0001
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Also known as 'C/T(-13910)', and located in the MCM6 gene but with influence on the lactase LCT gene, rs4988235 is one of two SNPs that is associated with the primary haplotype associated with hypolactasia, more commonly known as lactose intolerance in European Caucasian populations. , In these populations, the rs4988235(T) allele is both the more common allele and the one associated with lactase persistence; individuals who are rs4988235(C;C) are likely to be lactose intolerant. In populations of sub-Saharan Africans, though, the rs4988235(T) allele is so rare that it's unlikely to be predictive of lactase persistence, and other SNPs are predictive instead. * See also OMIM 601806.0001 [PharmGKB:Curated Risk or phenotype-associated allele: C .Phenotype: The C allele of this SNP completely...
increased risk of parkinson's disease While this does indicate increased risk of in one Parkinson's disease study. It is so common that it makes more sense to think of the other 2 genotypes as rare risk reducers.
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CC linked to parkinson's disease We provide evidence for a novel, strong and reproducible association of the PITX3 promoter SNP rs3758549 : C>T (p=0.004) with PD. The C-allele appears to be a recessive risk allele with an estimated population frequency of 83%.
Very slightly higher risk for breast cancer
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rs889312 is a SNP in the MAP3K1 gene. rs889312 was one of the four strongest associating SNPs found in a genome-wide association study of over 4,000 breast cancer samples. . From a DeCode user report, it appears that the risk allele is C; this A;A individual reportedly has 0.93x risk of breast cancer. In a study of 1,267 breast cancer patients, rs889312 heterozygotes and minor allele homozygotes were less likely to be lymph node positive at breast cancer diagnosis (P = 0.044) relative to major allele homozygote carriers. A meta-analysis including 26,015 cases and 33,962 controls concludes that the rs889312(C) allele is clearly a significant - but quite weak - contributor to increased risk for breast cancer. breast cancer *rs2981582, rs3803662, and rs889312) showed weak but significant asso...
very slightly higher risk for myocardial infarction
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rs2291834 is a SNP in the MIA3 gene. Several studies, most notably perhaps by deCode scientists, have shown a (very slightly) elevated risk for myocardial infarctions to be associated with the rs2291834(C) allele.
Magnitude: 1
Most likely CYP2C19 normal, i.e. CYP2C19*1, and therefore of the 'rapid metabolizer' phenotype. This is based on none of the 11 CYP2C19 variants on the 23andMe v2 chip (out of 19 reported in SNPedia; most are quite rare) being observed.
Magnitude: 1
You appear to be a CYP3A5 expressor. This is normal. However it is still possible you carry variations which were not tested by your platform.
decreased risk of schizophrenia in limited study
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Associated with schizophrenia in a study of Croatians. Due to the limited number and diversity of the studied population, more study is needed to confirm any link. The T allele was associated with a decreased risk of schizophrenia.
decreased risk of schizophrenia in limited study
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Associated with schizophrenia in a study of Croatians. Due to the limited number and diversity of the studied population, more study is needed to confirm any link. The C allele was associated with an decreased risk of schizophrenia. [PharmGKB:Curated This variant along with 3 other SNPs near DRD4 (4 SNP haplotype: rs3758653; rs916457; rs762502; rs11246226) is associated with tardive dyskinesia in male schizophrenia patients.]
possibly higher glaucoma risk?
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rs3825942, also known as G153D, a SNP causing an amino acid change in the lysyl oxidase 1 LOXL1 gene, has been linked to exfoliation glaucoma (also known as exfoliation syndrome). This form of glaucoma causes up to 10% of the cases of blindness in many countries, including the US. From the abstract of this study: 'Approximately 25% of the general population is homozygous for the highest risk haplotype and their risk of suffering XFG (exfoliation glaucoma) is over 100 times that of those only carrying low-risk haplotypes.' The risk allele for this SNP is rs3825942(C), as oriented with respect to the dbSNP entry, and it confers a estimated relative risk (by itself) of 27 compared to the (T) allele. The odds ratio is 20.10 (CI 10.80-37.41). [Note that the (C) allele is actually quite common i...
among patients with gastric cancer, risk for more aggressive form?
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rs187116, also known as +4883G>A, is a SNP in the CD44 gene. A presentation at the 2010 American Society of Clinical Oncology meeting based on ~100 patients reported this SNP as being significantly associated with more aggressive gastric cancer. In dbSNP orientation, the risk allele is rs187116(C); patients carrying at least one rs187116(C) had a significantly shorter median time-to-recurrence (TTR) of 2.1 years compared to 7.0 years TTR for rs187116(T;T) patients (p = 0.036, log-rank test).[http://www.asco.org/ASCOv2/Meetings/Abstracts?&vmview=abst_detail_view&confID=72&abstractID=1689]
somewhat lower vitamin D levels
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rs2282679, located in the group-specific component (vitamin D binding protein) GC gene on chromosome 4p12, has been linked by several studies to vitamin D serum concentrations. In both studies, the allele associated with lower vitamin D, and thus the potential for vitamin D insufficiency, is rs2282679(C). Carriers of two such alleles have lower vitamin D than carriers of one allele, who in turn on average have lower vitamin D levels than rs2282679(A;A) individuals. A near-perfect proxy (i.e. substitute) for rs2282679 is reported to be rs4588. [GWAS:Vitamin D levels]
common but slightly higher risk for hypertension
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rs13333226 is a SNP in the 5' region of uromodulin UMOD gene. A large GWAS study ultimately totaling over 20,000 cases and almost as many controls concluded that, compared to the far more common allele, the rarer rs13333226(G) allele is associated with a (slightly) lower risk of hypertension (odds ratio 0.87, CI: 0.84-0.91) as well as a 7.7% reduction per allele for risk of cardiovascular events after adjusting for age, sex, BMI, and smoking status (hazard ratio?0.923, CI: 0.860-0.991; p?=?0.027).
common, but increased risk of testicular cancer
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Testicular germ cell tumor risk I('TGCT'; i.e. testicular cancer risk) was increased 3x per copy of the major (T) allele at rs3782179 and rs4474514 (OR = 3.08, CI: 2.294.13; OR = 3.07, CI = 2.294.13, respectively), based on a genome-wide scan of 277 primarily Caucasian TGCT cases and 919 controls. Men who have two copies of the common version of the c-KIT ligand KITLG gene have a 4.5-fold higher risk of testicular cancer than men who have two copies of the less common or minor version of the gene. https://www.23andme.com/you/community/thread/7837/ The original study was also only done in 277 people with the disease and 900 controls, so it's a very small study. [OMIM:?]
1.1x increased risk for schizophrenia
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rs6932590 is a SNP that is postulated to have a role in conferring increased susceptibility for schizophrenia. rs6932590 lies in the major histocompatibility complex (MHC) region on chromosome 6, a region that codes for several genes with significant roles in autoimmunity, such as human leukocyte antigens. Specifically, rs6932590 lies in an intergenic region between PRSS16 (a serine protease expressed in the thymus that plays a role in positive T cell selection) and POM121L2 (a membrane glycoprotein) . The T allele at rs6932590 purportedly confers an increased risk for schizophrenia, with reported odds ratios of 1.16 and 1.31 . === Evidence === One large-scale case-controlled genome-wide association study (GWAS) that examined differential genotypes in individuals with schizophrenia, found ...
Conduct disorder (CD) is one of the most prevalent childhood psychiatric conditions, and is associated with a number of serious concomitant and future problems. CD symptomatology is known to have a considerable genetic component, with heritability estimates in the range of 50%. Four SNPs reached genome-wide significance with CD symptom count, based on P < 5x10^-8 Two of these SNPs (rs16891867 and rs1861046) were in the gene C1QTNF7 (C1q and tumor necrosis factor-related protein 7). These SNPs were in high LD (r^2=0.97). The other top two SNPs meeting genome-wide significance were intergenic and located on chromosomes 11 and 13. Alleles A/G were found to be associated with CD symptom count or CD case status. [http://www.downstate.edu/hbnl/documents/2010-Dick-Genome-wideassociationstudyof...
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[GWAS:Conduct disorder (case status)]
possibly higher glaucoma risk? glaucoma risk likely to actually be based on nearby rs3825942
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rs1048661, also known as R141L, a SNP causing an amino acid change in the lysyl oxidase 1 LOXL1 gene, has been linked to exfoliation glaucoma. This form of glaucoma causes up to 10% of the cases of blindness in many countries, including the US. [Science DOI: 10.1126/science.1146554] From the abstract of this study: 'Approximately 25% of the general population is homozygous for the highest risk haplotype and their risk of suffering XFG (exfoliation glaucoma) is over 100 times that of those only carrying low-risk haplotypes.' The risk allele for this SNP is rs1048661(G), and it confers a estimated relative risk (by itself) of 3.04. The odds ratio is 2.46 (CI 1.91-3.16). [Note that the (G) allele is actually quite common in most European populations.] However, a meta-analysis published in 201...
Duffy-positive This genotype is associated with European populations and south-western Native American populations.
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rs2814778 is within the DARC gene, which encodes the Duffy blood group antigen . This SNP shows an almost perfectly fixed difference in frequency between Europeans and those with African ancestry. [One exception appears to be a certain population of Czech gypsies, and certain non-Ashkenazi Jewish populations.]. Additionally the Namibian San samples of the CEPH-HGDP are, uncharacteristically for Africans, all AA homozygotes for this SNP. The rs2814778 (G) allele is associated with African populations, while rs2814778 (A) is associated with European populations and south-western Native American populations. rs2814778(G;G) protect against Plasmodium vivax malaria and predicts of white blood cell and neutrophil count spittoon discussion [PharmGKB:Curated African-American individuals with the ...
normal
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rs5030865 is a SNP in the CYP2D6 gene which defines two inactive variants, CYP2D6*8 and CYP2D6*14. This SNP has changed orientation in different reference genome builds and also has more than two allele changes possible, so references to it can be very confusing. The below are in genome build 37.1 plus orientation, while the 'also knowns' are in minus orientation: rs5030865(C) is the normal variant<br> rs5030865(A) is the CYP2D6*8 inactive variant, also known as 1758G>T or G169X<br> rs5030865(T) is the CYP2D6*14 inactive variant, also known as 1758G>A or G169R [OMIM:?]
Rh- (Rhesus negative)
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Rh (Rhesus) blood group, D antigen http://en.wikipedia.org/wiki/Rh_blood_group_system
Carrier for rs6994992(T;T) which one report has associated with both creativity and schizophrenia
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also known as SNP8NRG243177 Initial reports of a link to schizophrenia remain inconclusive. paper implicated in schizophrenia effects white matter density and integrity schizophrenia risk-associated The neuregulin 1 promoter polymorphism rs6994992 is '''not''' associated with neurocognition or chronic schizophrenia in a study of 738 patients T allele (in a per allele fashion) significantly associated with lateral ventricle volume in 95 first-episode schizophrenics points out that their result is that (T) was weakly associated with schizophrenia, however this is the opposite of the original association study where the C allele. [OMIM:NEUREGULIN 1; NRG1]
Magnitude: 0.8
No information regarding pain sensitivity. you were not recognized as gs234, gs233, or gs232.
Magnitude: 0.1
You probably experience typical sensitivity to pain according to See also gs232, gs234, and gs235
Magnitude: 0
CYP1A2 normal metabolizer
Magnitude: 0
you have one or more copies of the CNV discussed at . see also gs218 tested via at least rs16889859(-;-)