These seem interesting, but have not been flagged as clearly Good or Bad
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Magnitude: 4
Male.
Magnitude: 3.5
mitochondrial haplogroup V is believed to have originated approximately 12,000 years before present, possibly in Iberia. It is found with particularly high concentrations in the Netherlands, the Croatian Islands, Scotland and northern Scandinavia, as well as the Basque people and somewhat higher among the isolated Pasiegos in nearby Cantabria. ==See Also== *i3001813 *rs35788393 *i3001464 ==Links== *Ian Logan's mtDNA Website *Wikipedia mtDNA
Magnitude: 3
You have 2 variations in MTHFR which influence homocystine levels. people with gs193 are more strongly affected.
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.
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
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. Ciprofloxacin is also metabolized by CYP1A2, but is unclear if your genotype should influence its effect.
Magnitude: 2.5
All available markers match for Haplogroup I (Y-DNA). This haplogroup has subclades under it. The most specific subclade match is the most significant. The criteria checks up to five different markers of which you must have the mutation defining this haplogroup for each marker you have results for. You must have matching results for at least one marker. Only one match is required because not every service tests for all markers or your results may have a no-call for a marker. Any one marker should be a reliable indication of the haplogroup. To prevent false positives it also makes sure you do not have the non-mutated variant in all markers for which you have results. A study of 3,000+ British men concluded that carriers of haplogroup I had about a 50% higher age-adjusted risk of coronary ar...
4x increased risk for recurrent venous thromboembolism. rs5361(C;C) homozygous carriers of the Ser128Arg allele are at a 4X higher risk for recurrent venous thromboembolism (VTE); heterozygous carriers are not at increased risk. .
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The rs5361 Ser128Arg variation in this gene, known as E-selectin, is linked to several thrombotic disorders. rs5361(C;C) homozygous carriers of the Ser128Arg allele are at a 4X higher risk for recurrent venous thromboembolism (VTE); heterozygous carriers are not at increased risk. .
Magnitude: 2.5
Frequency: 5.4%
References:2
Frequency: 5.4%
References:2
straighter curl curly hair is less likely
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rs17646946 is a SNP on chromosome 1 that is apparently part of the trichohyalin-like 1 TCHHL1 gene. Trichohyalin is a protein found in hair follicle roots. In an interesting example of people-powered research, this SNP and one other were reported to be associated with hair curliness. Source: hair curl rs17646946 and rs7349332. source genetic future rs17646946 and hair curl with each A conferring a reduction in curliness of about 0.29 points on a scale from 0 to 5. See also: rs11803731 [GWAS:Common traits (Other)]
1.38x increased risk for prostate cancer
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rs4430796 is a SNP in the TCF2 gene on chromosome 17q12, associated with increased risk for prostate cancer in several studies. In a study of over 3,600 Caucasians with prostate cancer, rs4430796 is one of five SNPs used (with family history as a sixth factor) to cumulatively predict overall risk. On its own, the rs4430796(A;A) risk genotype - in dbSNP orientation, not as published - yields an odds ratio for developing prostate cancer of 1.38 (CI: 1.21-1.57, p=1.6x10e-6) and may account for 10.2% of population attributable risk. article linking to Prostate cancer and type-2 diabetes 403 non-Hispanic white families were studied, totaling 1,015 men, to reach the conclusion that the rs4430796(A) allele is associated with increased prostate cancer risk; the odds ratio was 1.40 (CI: 1.09-1.81) ...
2.15x more likely positive lymph node Women with this genotype and diagnosed with breast cancer were 2.15 times more likely to have lymph nodes node metastasis
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PMID: 16563182 This SNP in can have implications for prognosis in breast cancer. It is located 313 base pairs upstream of the 5'-untranslated region of SIPA1 and is considered to be within the promoter region of the gene. SIPA1 germline polymorphisms are associated with aggressive disease behavior(lymph node metastasis) in the cohort examined
carrier of one CYP1A2*1F allele; 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...
60% reduction in HIV viral load The rs9264942(C;T) genotype is reported to be associated with a 60% 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...
some risk linked to a number of metabolic conditions including obesity, coronary artery disease, insulin resistance and therefore diabetes, left ventricular hypertrophy, and hypertension. It has also been linked to how well a patient responds to Viagra (sildenafil).
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rs5443, a SNP in the G-protein beta3 subunit (GNB3) gene that is more commonly known as the C825T variant, has been linked to a number of metabolic conditions including obesity, coronary artery disease, insulin resistance and therefore diabetes, left ventricular hypertrophy, and hypertension. It has also been linked to how well a patient responds to Viagra (sildenafil). Several studies have been unable to replicate one or more of the associations in at least some populations between this SNP and these conditions. The more notable studies include: *rs5443(T) allele carriers are 2-3 fold more likely to be obese in Caucasian, Chinese, and African American populations. *rs5443(T) carriers are clearly at higher risk for hypertension, but this review indicates that whether they are also at incre...
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...
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
CYP2D6*9 double reduced metabolism
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.
3.8x or higher increased risk for Alzheimers
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rs669 is a SNP in the alpha-2-macroglobulin A2M gene. In dbSNP orientation, the rs669(A) allele encodes an isoleucine, and the rs669(G) allele encodes a valine; the SNP is also known as the Ile/Val variant. On its own, rs669 was not seen to reproducibly and independently increase risk for Alzheimer's disease in several studies of ~200 Italian patients. However, the T-C-A haplotype of rs12316150-rs1050283-rs669 was associated with both early- and late-onset Alzheimer's disease. The majority of the disease risk from this haplotype was based on rs1050283. The original 2004 study of 148 Italian sporadic AD patients yielded an odds ratio for the rs669(G;G) genotype (as oriented in dbSNP orientation) of 3.81 (CI: 1.66-8.75). The presence of rs2333227(C;C), in addition to rs669(G;G), appears to s...
Increased risk of hearing loss 15.2x risk of Age Related Hearing Impairment(ARHI), also known as presbycusis. This applies to the European and Turkish, but not Finnish populations.
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rs1799930 is a SNP in the NAT2 gene, potentially encoding a variant detoxifying protein known as an N-acetyltransferase, but which NAT2 variant depends on which other NAT2 SNPs were also inherited. See the discussion of the NAT2 gene for a more complete explanation. Also known as G590A. The risk allele for this SNP is rs1799930(A). [PharmGKB:Curated in vitro study; PK: 22-fold reduction in Vmax vs wild type] [OMIM:?]
Magnitude: 2
Frequency: 14.2%
References:6
Frequency: 14.2%
References:6
~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: 1.40–1.64, 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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rs6495306 increases susceptibility to Substance dependence, Alcohol 1.43 times for carriers of the G allele
Magnitude: 2
Frequency: 21.2%
References:3
Frequency: 21.2%
References:3
AMPD1 heterozygote
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rs17602729, a SNP located in the AMPD1 gene and also known as 'C34T', has at times been called the 'most prevalent genetic disease mutation', at least in Caucasians. Perhaps up to 10% of Caucasians and African-American carry one C34T allele (i.e. carry one rs17602729(A) allele) - and actually, most of them are unaware of any medically related issues since they don't typically have any particular symptoms that would warrant a trip to the doctor. So what's the issue? The AMPD1 gene encodes the enzyme adenosine monophosphate deaminase, which is one of the key enzymes used to process the energy source ATP. The C34T variation causes a premature stop in the protein, leading to a nonfunctional AMPD1 enzyme. Some individuals - but by no means all or even a majority apparently - who are AMPD1 defic...
reduced risk of baldness reduced risk of baldness
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spitoon rs2180439(T;T) have 2x increased odds of male pattern baldness. [PharmGKB:Non-Curated Susceptibility variants for male-pattern baldness on chromosome 20p11. (Initial Sample Size: 296 cases, 347 controls; Replication Sample Size: 319 cases, 234 controls); (Region: 20p11.22; Reported Gene: PAX1, BQ013595, BE789145; Risk Allele: rs2180439-C) This variant is associated with Male-pattern baldness.] [OMIM:ALOPECIA, ANDROGENETIC, 3; AGA3] [GWAS:Male-pattern baldness]
Magnitude: 2
Frequency: 23.2%
References:4
Frequency: 23.2%
References:4
wet earwax
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s17822931, also known as c.538G>A or G180R, is a SNP in the ATP-binding cassette, sub-family C (CFTR/MRP), member 11 ABCC11 gene. This SNP determines wet vs dry earwax as well as sweat production, it is also associated with lipid secretion. It is commonly (T;T) for asians and (C;C) for europeans and africans. gnxp indicates this SNP influences risk of breast cancer in Japanese women. This does not hold true in Caucasian women, though. [OMIM:ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 11; ABCC11]
learns NoGo faster According to spittoon this genotype is better for a particular learning task.
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rs6277 (957C>T, Pro319Pro) is one of several SNPs in the dopamine receptor DRD2 gene. In a study of 300+ Russian patients with schizophrenia, the rs6277(C) allele was associated with higher risk. From a pooled meta-study (total of 4 other reports plus this one) the allelic odds ratio is 1.42 (CI: 1.26-1.61, p<0.00005), and the genotypic odds ratio for the (C;C) genotype was 1.6 (CI: 1.32-1.95, p<0.00005). Note that rs6275 and rs6277 are only 18bp apart, hence their very tight linkage (r<sup>2</sup>=1). C allele associated significantly (p = 0.021) with post-traumatic stress disorder in a sample of (assumedly Australian) 127 war veterans w/ 228 controls spittoon people with two As at rs6277(T;T) were better at NoGo learning. [pharmgkb] T allele associated with decrease ...
increased 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
Frequency: 30.1%
References:15
Frequency: 30.1%
References:15
1.3x increased type-2 diabetes risk
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This SNP is in the TCF7L2 gene, and has been linked to type-2 diabetes, breast cancer and aggressive prostate cancer. This SNP is also known as IVS4G>T. is the paper which links it to Breast cancer. It suggests the T allele as increasing risk. reports the association of rs12255372 and rs7903146 with Type-2 diabetes in a Finnish sample. rs12255372 Common variants (rs12255372 and rs7903146) in TCF7L2 seem to be associated with an increased risk of diabetes among persons with impaired glucose tolerance Considered for type-2 diabetes with rs7903146 rs12255372 rs10885406. Associated in a study of ~1000 Hispanic-Americans with reduced insulin secretion as measured by acute insulin response and adjusted for the degree of insulin sensitivity (p = 0.036). In a study of 1,457 prostate cancer case...
Magnitude: 2
Frequency: 31.0%
References:2
Frequency: 31.0%
References:2
possible risk for allergic asthma
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A large study of Caucasian children has identified this SNP in the TBX21 gene (and one other, rs16947078) as defining a haplotype associated with increased risk for allergic asthma. The odds ratio associated with rs11650354(T;T) homozygotes compared to rs11650354(C;C) homozygotes for allergic asthma is reported to be 8.13 (CI: 2.5-26.9). Heterozygotes may be at slightly higher risk.
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news increased risk of lung cancer in non smokers. Analysis showed that the presence of this variant significantly increased the risk of a never smoker having lung cancer by 1.46 times (odds ratio 1.46, 95% confidence interval 1.26 to 1.70). [PharmGKB:Curated Risk or phenotype-associated allele: Not specified. Phenotype: This variant was asssociated with risk for lung cancer in never smokers in a GWAS and validated and replicated in two further cohorts. Study size: 754 (GWAS); 988 (validation); 530 (replication). Study population/ethnicity: Never smokers; USA. Significance metric(s): OR = 1.46 (95% CI 1.26-1.70; p = 5.94x10(-6). Type of association: CO.]
1.2x increased risk of prostate cancer This genotype is at increased risk of prostate cancer Recommendation: To reduce the risk eat a diet rich in phytoestrogens such as flax seed
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In one large Swedish study, men with one or two rs2987983(C) alleles were reported to be at somewhat increased (odds ratio 1.22) risk for Prostate cancer compared to men homozygous for the wild type rs2987983(T) allele, however the risk can be reduced by adding phytoestrogens to the diet. [PharmGKB:Curated Haplotype tagging SNP.] [OMIM:ESTROGEN RECEPTOR 2; ESR2]
associated with higher HDL cholesterol
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G allele is associated with 0.82mg/dl increase in HDL cholesterol (good cholesterol). [GWAS:HDL cholesterol]
Magnitude: 2
Frequency: 40.7%
References:16
Frequency: 40.7%
References:16
Shorter QT interval
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rs10494366, a SNP in the NOS1AP gene encoding the nitric oxide synthase I adaptor protein, accounts for some of the variation seen in abnormal heart rhythms, in particular, the QT interval. Based on studies totaling ~4,000 individuals of Caucasian ancestry, homozygotes for one allele have shorter QT intervals, while homozygotes for the other allele have a longer QT interval. A follow-up study determined that one rs10494366(G) allele was associated with a 3.8-ms (CI: 3.0 - 4.6ms, p=7.8x10(-20)) increase in QT interval duration, and two (G) alleles had twice that increase. No increase in risk for sudden death due to a cardiac problem was associated with this SNP, though. rs10494366 minor homozygotes had a 9.3 msec longer QT interval compared to major homozygotes (p=5.7x10(-5)); rs10918594 mi...
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]
increased risk of coronary heart disease; better response to statins
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rs2298566 is a SNP in the MYH15 gene. The risk allele in terms of heart disease is rs2298566(C). This SNP is one of the 5 used by Celera's genetic risk score (GRS) for coronary heart disease (CHD). *rs20455, in the KIF6 gene *rs3900940, in the MYH15 gene *rs7439293, in the PALLD gene *rs2298566, in the SNX19 gene *rs1010, in the VAMP8 gene For each of the five variants, the GRS was increased by 1 if the subject was homozygous for the risk variant, unchanged if heterozygous, and decreased by 1 if the individual did not carry the variant. Therefore, individuals carrying all 10 possible risk variants (two copies of each of the five SNPs) were assigned a GRS of 5 and those carrying no risk variants a GRS of -5. A high GRS was defined as 3 or higher. Approximately 4% of the white cohort in ARIC...
2.3x risk of rheumatoid arthritis
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rs6457617 has been reported in a large study to be associated with rheumatoid arthritis. This SNP is reported to be the most statistically significant of many SNPs similarly located in the MHC region. The risk allele (oriented to the dbSNP entry) is (T); the odds ratio associated with heterozygotes is 2.36 (CI 1.97-2.84), and for homozygotes, 5.21 (CI 4.31-6.30). [GWAS:Rheumatoid arthritis]
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...
Magnitude: 2
Frequency: 52.7%
References:9
Frequency: 52.7%
References:9
associated with higher HDL cholesterol
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T allele is associated with 1.76mg/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: 15q22.1; Reported Gene(s): LIPC; Risk Allele: rs10468017-T); (p-value= 8E-23).This variant is associated with HDL cholesterol.] [GWAS:HDL cholesterol]
lower HDL cholesterol
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The (A) allele of rs326 was associated with risk for lower high-density lipoprotein (HDL) cholesterol plasma levels in 3 independent population samples, including both Caucasians and African-Americans. [PharmGKB:Curated This SNP has been associated with small changes in HDL cholesterol levels. The A allele has been correlated with lower HDL.] [OMIM:LIPOPROTEIN LIPASE; LPL] [GWAS:Triglycerides]
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...
increased risk of baldness slightly higher 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.
increased susceptibility to novelty seeking
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g2b2mh blog C allele of rs1800955 DRD4 gene survives an analysis of several dozen studies on genetics and personality. Although small, The evidence from our final meta-analysis indicates that the C-521T may account for up to 3% of phenotypic variance. rs1800955 and rs1800443 are discussed in this article as influencing personality
Magnitude: 2
References:4
References:4
frontal brain having to working harder during a working memory task. higher scores of neuroticism and lower scores of conscientiousness hyperactivations in areas associated with elaborate episodic memory encoding and retrieval strategies.
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Rs35753505 (SNP8NRG221533) is located within the 5'-flanking region of the NRG1 (Neuregulin 1) gene. g2b2mh blog rs35753505(C;C) correlates with frontal brain having to working harder during a working memory task. personality traits - C allele carriers associated with higher (NEO-FFI) scores of neuroticism and lower scores of conscientiousness in a sample of 523 healthy individuals The results suggest that subjects with risk alleles show hyperactivations in areas associated with elaborate episodic memory encoding and retrieval strategies.
CYP2D6*9 homozygote
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rs5030656, also known as 2615_2617delAAG or K281del, is a SNP in the CYP2D6 gene. The rs5030656(-) allele defines the CYP2D6*9 variant, which has decreased activity.
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.
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 less pain than most people. However phased data may be necessary to increase certainty. See also gs232 gs233 gs234 gs235
significantly higher sugar consumption?
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rs5400(T;T) carriers had a significantly higher intake of sugars blog discussion
common, but 2.2x higher risk for heart disease
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rs8055236 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 1.91 (CI 1.33-2.74), and for homozygotes, 2.23 (CI 1.56-3.17). [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: rs8055236-G). This variant is associated with coronary disease.] [GWAS:Coronary disease]
1.6x increased risk for gallstone disease in Taiwanese/Chinese
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rs3758650 is a SNP in the cadherin-related family member 5 CDHR5 gene. A study of 452 Taiwanese patients with gallstone disease found association between rs3758650 and risk for this disorder, with an odds ratio of 1.59 (adjusted p=0.013) for the rs3758650(A;G) genotype and 5.82 (adjusted p=0.007) for the rs3758650(A;A) genotype when compared with the reference (G;G) genotype.
1.6x increased risk for preeclampsia in most populations Note: this is relevant to the fetal genotype, not the maternal genotype
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rs2549782 is a SNP in the endoplasmic reticulum aminopeptidase 2 ERAP2 gene. A case-control study of 1103 Chilean maternal-fetal dyads and 1637 unpaired African American samples (836 maternal, 837 fetal) concluded that the fetal minor allele rs2549782(G) was associated with 1.3x increased risk (CI: 1.075-1.619) for preeclampsia in the African American population (p = 0.009), but not in the Chilean population.
1.6x higher risk for glioma development
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spittoon rs2736100 C 1.27 Glioma [PharmGKB:Non-Curated A genome-wide association study identifies an association of a common variant in TERT with susceptibility to idiopathic pulmonary fibrosis. (Initial Sample Size: 159 Japanese cases, 934 Japanese controls; Replication Sample Size: 83 Japanese cases, 535 Japanese controls); (Region: 5p15.33; Reported Gene: TERT; Risk Allele: rs2736100-A) This variant is associated with Idiopathic pulmonary fibrosis.] [OMIM:LUNG CANCER SUSCEPTIBILITY 3; LNCR3] [GWAS:Idiopathic pulmonary fibrosis]
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: 1.2–2.7); in the Russian population of 1,837 patients, the odds ratio was 1.2 (CI: 1.02–1.48); the combined evidence for association was p = 1.2×10e?3 – 6×10e?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.
Magnitude: 1.5
This genoset is intended to recognize carriers of HLA-B*1502, however there is some doubt to its accuracy. It is only expected in Chinese individuals and being certain of it requires phased data which isn't usually possible with microarrays. The Carbamazepine reaction 'has not been found in Caucasian patients' http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2586963/ . The discussion page has more info.
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).
increases susceptibility to Myocardial Infarction 1.15 times
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The G->C (Cys2229Ser) polymorphism (rs619203) of the ROS1 gene was significantly associated with atherothrombotic cerebral infarction in a study of 3,400+ Japanese adults. An independent study of 3657 patients with myocardial infarction (885 women and 2772 men) and 1211 control individuals (598 women and 613 men) did not observe any correlation to this SNP. rs619203 increases susceptibility to Myocardial Infarction 1.15 times for heterozygotes (CG) and 1.75 times for homozygotes (TT)
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]
normal 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.
~1.5x increased lung cancer risk
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rs1169300 is a SNP that was originally associated with C-reactive protein levels, and given other findings that suggest C-reactive protein levels may be predictive of cancer risk, was thought to be linked to cancer risk. A large study pooling data from 3 Finnish studies totaling over 18,000 individuals concluded that while this SNP is not likely to be causative (relative to cancer), it and one other CRP SNP (rs2464196) are associated with increased risk for lung cancer. The odds ratio for minor alleles of either SNP was about 1.5x and 2x for heterozygotes and homozygotes, respectively. One other CRP SNP (rs1892534) was associated with increased overall cancer risk. CRP SNPs were not associated with colorectal, prostate or breast cancer risk.
~1.5x increased lung cancer risk
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rs2464196 is a SNP that was originally associated with C-reactive protein levels, and given other findings that suggest C-reactive protein levels may be predictive of cancer risk, was thought to be linked to cancer risk. A large study pooling data from 3 Finnish studies totaling over 18,000 individuals concluded that while this SNP is not likely to be causative (relative to cancer), it and one other CRP SNP (rs1169300) are associated with increased risk for lung cancer. The odds ratio for minor alleles of either SNP was about 1.5x and 2x for heterozygotes and homozygotes, respectively. One other CRP SNP (rs1892534) was associated with increased overall cancer risk. CRP SNPs were not associated with colorectal, prostate or breast cancer risk. [PharmGKB:Curated In a candidate gene-based ass...
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]
least likely to be able to 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)]
Magnitude: 1.5
Frequency: 48.7%
References:9
Frequency: 48.7%
References:9
0.84x decreased risk for Alzheimer's disease
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rs11136000 is a SNP associated with the clusterin CLU gene, which has also been known as the APOJ gene. A study of over 5,000 Alzheimer's disease patients (and over 10,000 controls) found a slight protective effect of the (T) allele of this SNP. rs11136000(T) carriers had a slightly decreased risk for Alzheimer's disease, with an odds ratio of 0.84 (CI: 0.8-0.9, p=1.4x10e-9). The association of this SNP and late-onset Alzheimer's disease was replicated over a total of another 1829 cases (and 2576 controls). A MRI study of ~400 young (average age: 23) healthy carriers of rs11136000(C) alleles found a distinct profile of lower white matter integrity in these individuals that may increase their vulnerability to developing Alzheimer's later in life. To put it another way, 50 years before the a...
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.
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...
~1.4x increased risk of hypertension
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rs5186, a SNP known as +1166A/C or A1166C, is located in the 3' untranslated region of the angiotensin II receptor type 1 gene AGTR1, which is also known as AT2R1 or AT1R. It is among the most studied of over 50 SNPs in AGTR1. The rs5186(C) allele is associated with increased risk for essential hypertension in Caucasian populations with an odds ratio of 7.3 (homozygote (C;C) compared to (A;C) and (A;A), CI: 1.9-31.9,p=0.0015). There are likely to be ethnic differences in risk; while the rs5186(C) allele was associated with hypertension in a Chinese population , it was not been observed as a risk in a Japanese population. Age and gender may also influence risk, as discussed in a review of AGTR1 SNPs and their role in hypertension and related disorders. Pregnant women who are rs5186(C) allel...
1.3x 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...
1.4x increased risk of prostate cancer
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rs1447295 is a SNP on chromosome 8q24, associated with increased risk for prostate cancer in several studies. In a study of over 3,600 Caucasians with prostate cancer, rs1447295 is one of five SNPs used (with family history as a sixth factor) to cumulatively predict overall risk. On their own, the rs1447295(A;A) and (A;C) risk genotypes yield an odds ratio for developing prostate cancer of 1.22 (CI: 1.06-1.40, p=5.3x10-3) and may account for 5.4% of population attributable risk. The rs1447295] location could be responsible for about seven percent of prostate cancer cases in white men of north European descent. Thus, taken together with rs6983267, these two genetic changes could account for as much as one quarter of prostate cancer cases in white men. The increased risk was observed for all...
Magnitude: 1.4
Frequency: 37.2%
References:5
Frequency: 37.2%
References:5
0.71x lower risk for spondylitis
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rs10050860 is one of several SNPs in the ERAP1 gene that has been shown in a large (over 1,000 Caucasian patients) study to be associated with ankylosing spondylitis. The odds ratio is 0.71 (p=7.7x10e-9).
1.4x increased risk for breast cancer
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rs1126497, also known as Thr115Met, is a SNP in the epithelial cell adhesion molecule EPCAM gene. In a study of case control study of 1643 individuals with breast cancer and 1818 control subjects in Eastern and Southern Chinese populations, the rs1126497(T) allele was associated with a 1.4x increased risk (CI: 1.16-1.57), and it was also associated with early breast cancer onset (p=0.0023).
2.5x increased risk for chronic kidney disease in a small unreplicated study
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rs6495446, an intronic SNP in the MTHFS gene, was associated with increased risk for chronic kidney disease based on a study associated with the Framingham Heart Study of ~1,000 Caucasian individuals. The odds ratio rs6495446(C) allele was 1.24 (CI: 1.09-1.41, p=0.001).news 23andMe reports this same information with a different emphasis: each T allele lowers the odds of chronic kidney disease by 0.8 times.
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]
carrier Since this comes from omim, it's supposed to be a rare disorder, but HapMap shows that variation is common
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[OMIM:PEPTIDE TRANSPORTER PSF2 POLYMORPHISM]
1.3x higher risk for schizophrenia (among Han Chinese)
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rs2024513 is a SNP in the neurexin-1 NRXN1 gene on chromosome 2p16.3. Based on a case-control study of 700+ Han Chinese patients with schizophrenia, rs2024513(A) was associated with higher risk, at an odds ratio of 1.3 (CI: 1.07 - 1.56, p=0.006).
Magnitude: 1.3
Frequency: 88.5%
References:2
Frequency: 88.5%
References:2
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 = 6.73×10e-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.
>1.12x increased risk for skin cancer
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rs13181 is a SNP of the XPD/ERCC2 gene. A meta-analysis of 20 studies, comprising 2,308 cases, ultimately concluded that the rs13181(G) allele is associated with increased cutaneous melanoma risk (odds ratio 1.12, CI: 1.03-1.21, p = 0.01; population attributable risk = 9.6%). [PharmGKB:Curated Risk or phenotype-associated allele: G. Phenotype: The G allele of ERCC2:Lys751Gln was significantly associated with shorter event free survival. Study size: 70. Study population/ethnicity: Patients with osteosarcoma treated with cisplatin; Spain. Significance metric(s): HR = 5.76; 95% CI=1.30-25.55; p = 0.021. Type of association: CO. Phenotype: The G allele of ERCC2:Lys751Gln was significantly associated with decreased response to cisplatin. Study size: 70. Study population/ethnicity: Patients wit...
Magnitude: 1.2
Frequency: 12.4%
References:3
Frequency: 12.4%
References:3
0.8x 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). [GWAS:None]
1.2x higher risk for inflammatory bowel diseases
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rs689466 is a SNP in the COX-2 gene, also known as the prostaglandin-endoperoxide synthase 2 PTGS2 gene. A Scottish and Danish case-control study including 732 Crohn's disease (CD) cases, 973 ulcerative colitis (UC) cases, and 1157 healthy controls found that the rs689466(G) allele was associated with higher risk for ulcerative colitis and inflammatory bowel disease, especially among those who never smoked. The reported odds ratios were 1.25 and 1.47, rspectively. This allele was also associated with younger age at diagnosis and with extensive ulcerative colitis. [PharmGKB:Curated Risk or phenotype-associated allele: A. Phenotype: The AA genotype was associated with increased risk for esophageal neoplasms. Functional analysis also showed increased transcription of promotor constructs with...
1.2x higher risk for glioma development
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spittoon rs498872 A 1.18 Glioma [GWAS:Glioma]
1.2x higher risk for glioma development
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spittoon rs6010620 G 1.28 Glioma [OMIM:?] [GWAS:Glioma]
1.2x higher risk for glioma development
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rs4977756 is a SNP near the CDKN2BAS gene. A (GWA) study for open-angle glaucoma (OAG) blindness ultimately based on ~1500 cases concluded that the rather common rs4977756(A) allele was statistically associated with the condition, with a per allele odds ratio of 1.39 (CI: 1.28–1.51, p = 1.35 × 10e?14). [OMIM:?] [GWAS:Glioma]
1.2x increased risk for T2D in some populations
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This SNP is in a linkage block in the FTO gene with rs1121980; see rs1121980 for the association of this block with early onset obesity since it showed the strongest association. This SNP did not show any association with obesity, type-2 diabetes or any other related traits in a study of 3,210 Chinese subjects. Furthermore, the minor allele frequency was much lower in Chinese populations compared to populations of European descent. However, a more recent study of 4,189 Chinese Han subjects combined with a meta-analysis of published studies concluded that rs8050136(A) was associated with both increased risk for type-2 diabetes and obesity. rs8050136 associated with increased food intake, but not of impaired energy expenditure. [PharmGKB:Non-Curated GWAS results: Genome-wide association yie...
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
1.15x increased risk for late-onset Alzheimer's
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rs3818361 is a SNP associated with the complement component (3b/4b) receptor 1 CR1 gene. The association of this SNP and late-onset Alzheimer's disease was replicated over a total of another 1829 cases (and 2576 controls). The odds ratio for rs3818361(T) allele was 1.15 (note the p value was 0.014). [GWAS:None]
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).
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). [GWAS:None]
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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).
Magnitude: 1.1
Frequency: 48.7%
References:19
Frequency: 48.7%
References:19
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...
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%.
may be associated with ADHD
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T allele may be associated with Attention deficit hyperactivity disorder.
Magnitude: 1
Frequency: 20.4%
References:1
Frequency: 20.4%
References:1
Magnitude: 1
Frequency: 21.2%
References:3
Frequency: 21.2%
References:3
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.]
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.
M170+ Match for haplogroup I (Y-DNA). [haplogroup:I (Y-DNA)]
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Also known as M170. The rs2032597(C;C) mutation is a reliable indicator of Haplogroup I (Y-DNA) and is also referred to as M170+. [haplogroup:?]
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 ...
unreplicated, higher risk for migraine
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rs1835740 is a SNP from the 8q22.1 chromosomal region, best known for harboring various genes involved in glutamate metabolism and transport. A large study comprising over 5,000 migraine patients and over 10,000 matched controls, primarily from Europe, found that the rs1835740(A) allele conferred a (slightly) higher risk for the disorder. The reported odds ratio was 1.18, (CI: 1.127–1.244, p = 1.69 × 10e-11).. However this study has failed to replicate in 2 followups.
Adverse reaction more likely to carbamazepine in epileptic patients
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rs2273697, also known as c1249G>A or p.V471I, is a nonsynonymous polymorphism in the ABCC2 gene. From an initial case-control study of 146 patients with epilepsy, followed by replication (p=0.001) in another 279 patients, the rs2273697(A) allele was associated with neurological adverse drug reactions from taking carbamazepine. Functional studies showed that this SNP selectively reduced carbamazepine transport across the cell membrane. [PharmGKB:Curated Risk or phenotype-associated allele: A. Phenotype: This SNP showed a strong association with the neurological adverse drug reaction caused (ADR) by carbamazepine (P=0.005). The study results indicate that the c.1249A variant is an independent risk factor of carbamazepine CNS ADR. Study size: 146 patients with epilepsy who had been prescr...
Magnitude: 1
Frequency: 67.3%
References:1
Frequency: 67.3%
References:1
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).
Magnitude: 1
Frequency: 86.4%
References:0
Frequency: 86.4%
References:0
U179+ Match for haplogroup I (Y-DNA). [haplogroup:I (Y-DNA)]
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The rs2319818(A;A) mutation is a reliable indicator of Haplogroup I (Y-DNA) and is also referred to as U179+. [haplogroup:?]
Duffy-positive This genotype is associated with European populations and southwestern 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 southwestern 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 C/...
increased creativity? Associated with creativity (or at least people who answer ads asking for people who believe they have high creativity) in people with high intellectual and academic performance. Intriguingly, the highest creative achievements and creative-thinking scores were found in people who carried the (T;T) genotype, which was previously shown to be related to psychosis risk and altered prefrontal activation. omim rs6994992 in 5-prime promoter region of the NRG1 gene regulates expression of the NRG1 type IV isoform. The T allele, which is the schizophrenia risk allele, showed a 65% increase in promoter activity. newscientist reports that this variation has been linked to psychosis, poor memory and sensitivity to criticism. About 50 per cent of healthy Europeans have one copy of...
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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]
M258+ Match for haplogroup I (Y-DNA). [haplogroup:I (Y-DNA)]
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The rs9341301(C;C) mutation is a reliable indicator of Haplogroup I (Y-DNA) and is also referred to as M258+. [haplogroup:?]
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anxiety-related personality traits, ADHD, schizophrenia part of a three marker haplotype rs737865-rs4680-rs165599 epistasis between SNPs in COMT (rs2097603, Val158Met (rs4680), rs165599) and polymorphisms in other schizophrenia susceptibility genes popular in pubmed is associated with bipolar disorder and influences prefrontal aspects of verbal memory in bipolar patients and healthy controls. [PharmGKB:Curated In a study of 78 African American and 65 white patients diagnosed with schizophrenia or schizoaffective disorder, this SNP in the COMT gene was found to have significant associations with response to risperidone over 2-12 weeks in both African-American and white patients.] [OMIM:CATECHOL-O-METHYLTRANSFERASE; COMT]
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
you have one or more copies of the CNV discussed at . see also gs218 tested via at least rs16889859(-;-)