These seem interesting, but have not been flagged as clearly Good or Bad
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Magnitude: 4
Male
Male.
Magnitude: 3.1
blue eyes are much more likely
Most people with this have some shade of blue eye color (some are more grey, some are more green), however one person with brown eyes has also observed this genoset. This spreadsheet is gathering more information on self reported eye color.
Magnitude: 3
fully heterozygous, age related tasting variation
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
more stimulated by coffee
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
homozygous for eye color haplotype #3
According to this is blue eye color haplotype #3, however user self reporting suggests it is not a reliable predictor of eye color.
CYP1A2 slow caffeine metabolizer. More strongly affected by drinking coffee, because caffeine is broken down slower in your liver. Supposedly this increases risk of heart attacks, although other studies show caffeine is generally good for your heart. This also makes caffeine more effective at preventing Breast Cancer, Alzheimer's Disease, and Parkinson's disease. But too much caffeine will shrink your breasts.
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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...
Magnitude: 2.3
homozygous eye color haplotype #1
thumb|light brown gs255 eyes According to this is Blue eye color haplotype #1, however numerous caucasian users have self reported brown eyes.It is clearly not the darker eye color found in asian or african populations, but it also is not particularly predictive of a reliable eye color. thumb|light blue gs255 eyes thumb|gray blue gs255 eyes
reduced warfarin dose if treated for VTE
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Several SNPs in the VKORC1 gene have been linked to warfarin sensitivity, with perhaps the most common being this SNP rs9923231. Note that the orientation as published in scientific articles is often on the opposite strand compared to the orientation in dbSNP, so you will sometimes see it as a G>T snp. It is also known as *-1639G>A with the minus indicating that this is in an upstream promoter *3673 based on its position in GenBank accession number AY587020. *VKORC1*2. The main findings related to the treatment of venous thromboembolism (aka VTE; from hypercoagulability) with the blood thinner warfarin for this SNP are that carriers of the rs9923231(T) allele require significantly reduced doses of warfarin, and are (otherwise) at a higher risk of serious bleeding. Clinical studies de...
blond hair & blue eyes is 4x more likely
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rs1667394 increases susceptibility to Blond rather than brown hair 4.94 times for carriers of the A allele rs1667394 increases susceptibility to Blue rather than brown eyes 29.43 times for carriers of the A allele rs1667394 increases susceptibility to Blue rather than green eyes 6.74 times for carriers of the A allele For green versus blue eye color rs12913832 in OCA2/HERC2 has a score of 51.5 and an estimated allelic OR of 8.43 . The SNP rs1667394 in this same region has an estimated OR of (4.85–10.06). [OMIM:HECT DOMAIN AND RCC1-LIKE DOMAIN 2; HERC2] [GWAS:Eye color]
long form of 5-HTTLPR. less sensitive to pain 23andMe reports that this genotype is not reliable on their platform. 23andMe users should ignore this result. happier, less sensitive to pain You consider perpetrating unintentional harm as more acceptable The genotype of this SNP is not meaningful on 23andme v3. *https://www.23andme.com/you/community/thread/6192/
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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...
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. T/T carriers displaying significantly increased subjective levels of anxiety after consumption. However a PharmGKB variant annotation suggests it is (C;C) genotypes who are more sensitive to caffeine. 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. 'rs2298383 shows functional potential based on in silico analyses and might therefore represent the true underlying causal variant'
warfarin resistance (~6.5 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. Genetic-based dosing in orthopedic p...
Magnitude: 2
A blood group; AA or AO at molecular level
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
Haplogroup I1* (Y-DNA)
Possible match for Haplogroup I1* (Y-DNA) subclade of Haplogroup I1 (Y-DNA) and Haplogroup I (Y-DNA). The * indicates negative for all subclades of the haplogroup. You do not match any of the subclade markers for which you have results, however you do not have test results for one or more markers. This match should be considered inconclusive until you have tested all subclade markers.
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[OMIM:LOS ANGELES VARIANT]
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This SNP, a variant in the BRCA1 gene, is 1 of 25 SNPs reported to represent independently minor, but cumulatively significant, increased risk for breast cancer. For details of all 25 SNPs in this group, along with the two methods used to calculate overall risk estimates for breast cancer, refer to the SNPedia breast cancer entry. For this particular SNP, the risk (minor) allele is (G).
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This SNP, a variant in the BRCA1 gene, is 1 of 25 SNPs reported to represent independently minor, but cumulatively significant, increased risk for breast cancer. For this particular SNP, the risk (minor) allele is (G). For details of all 25 SNPs in this group, along with the two methods used to calculate overall risk estimates for breast cancer, refer to the SNPedia breast cancer entry or BRCA1 and BRCA2.
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rs572515 was the most significantly associated of a group of SNPs in the chromosome 1q32-33 region with risk for neovascular age related macular degeneration (p < 10-6).
rs3738401(A;A) and rs751229(G;G) together indicate homozygosity for the HEP3 haplotype of DISC1.
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rs3738401 is a SNP in the DISC1 gene, known as R264Q. Associated with schizophrenia 13 single-nucleotide polymorphisms (SNPs) in 723 members of 179 Finnish Bipolar disorder families. *rs751229(T) and rs3738401(A) was over-transmitted to males with psychotic disorder. *under-transmitted rs821616(T) and rs1411771(T) *The risk haplotype for psychotic disorder also associated to perseverations (P = 0.035; for rs751229 alone P = 0.0012), and a protective haplotype G-T-G with rs1655285 in addition to auditory attention (P = 0.0059). [OMIM:DISRUPTED IN SCHIZOPHRENIA 1; DISC1]
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...
lower HDL cholesterol but 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.
Lower HDL cholesterol in women and late-onset Type-2 diabetes
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omim 131240 In a study of 103 candidate genes for coronary artery disease and associated phenotypes in the French-Canadian founder population of the Saguenay Lac St-Jean region of Quebec, Pare et al. (2007) found that HDL cholesterol levels were associated with a lysine-to-asparagine substitution at codon 198 (K198N) of the EDN1 gene in a sex-specific manner. The minor allele T (Asn) of the K198N substitution (dbSNP rs5370) was associated with lower HDL cholesterol values. Women showed a strong association between dbSNP rs5370 and HDL cholesterol (P = 1.3 x 10(-5)), whereas in men no such significant association was identified (P = 0.14). 3x increase in the adjusted odds of being hypertensive of rs5370(T;T) homozygotes compared to (G;G) homozygotes (odds ratio 2.89, 9CI: 1.02 - 8.19). Afte...
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. Polymorphisms in inflammation-related genes are associated with susceptibility to major depression and antidepressant response.
normal risk for lung cancer; higher risk for MI
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rs17576, also known as Gln279Arg or Q279R, is a SNP in exon 6 of the matrix metalloproteinase-9 MMP9 gene. The rs17576(G) allele encodes the Arg (R). In a study of 385 male veterans with greater than 20 pack-years of cigarette smoking, rs17576(G) allele carriers were at higher risk for chronic obstructive pulmonary disease (COPD). The rs17576(G;G) homozygous genotype was at 3-fold increased risk for COPD. A study of 744 Chinese patients with lung cancer found that the rs17576(G;G) genotype was associated with higher risk of lung cancer with metastasis (adjusted OR, 1.79, CI: 1.03-3.08) compared to the (A;A) genotype. rs17576 is also one of two SNPs in the MMP9 gene associated with increased risk for myocardial infarction, but not coronary artery disease. The relatively weak odds ratios for...
Magnitude: 2
Frequency: 40.7%
References:28
Frequency: 40.7%
References:28
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...
Magnitude: 2
Frequency: 43.1%
References:10
Frequency: 43.1%
References:10
CYP2C19*17 ultra fast metabolizer; drug metabolism effects; also 0.77x decreased breast cancer risk
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rs12248560(T) defines the CYP2C19*17 allele, an ultra fast metabolizer phenotype of the CYP2C19 gene. CYP2C19*17 is likely to lead to less effective drug treatment by, for example, proton pump inhibitors (such as omeprazole) and antidepressants. On the other hand, cancer patients who are CYP2C19*17 carriers are more likely to benefit from tamoxifen treatment, presumably because they break it down more rapidly into the antiestrogenic metabolites endoxifen and 4-hydroxytamoxifen. A study of 1,000+ breast cancer patients showed a 0.77x decreased risk of breast cancer for carriers of a CYP2C19*17 allele (CI: 0.65-0.93, p = 0.005). Analysis of a subgroup of such carriers who were using hormone therapy for ten years or longer showed an even stronger effect (odds ratio 0.57, CI: 0.39-0.83, p = 0....
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]
~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. ...
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...
Magnitude: 2
Frequency: 61.9%
References:29
Frequency: 61.9%
References:29
blue eye color, 99% of the time
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rs12913832 is a SNP near the OCA2 gene that may be functionally linked to blue or brown eye color, due to a lowering of promoter activity of the OCA2 gene. Blue eye color is associated with the rs12913832(G;G) genotype. For green versus blue eye color rs12913832 in OCA2/HERC2 has a score of 51.5 and an estimated allelic OR of 8.43 . The SNP rs1667394 in this same region has an estimated OR of (4.85–10.06). rs12913832 is also part of a haplotype spanning 166kB on chromosome 15, defined by 13 SNPs listed below, that is found in 97% of all Caucasians with blue eyes. In this haplotype, variations in rs1129038 and rs12913832 are relatively common in Caucasians though rare among other racial groups. rs12913832-T (brown eye) homozygotes compared to rs12913832-C (blue eye). correlations with skin,...
Magnitude: 2
Frequency: 75.0%
References:4
Frequency: 75.0%
References:4
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]
Magnitude: 2
Frequency: 75.9%
References:10
Frequency: 75.9%
References:10
Wet earwax. Normal body odour. Normal colostrum. This is normal for non-Asians. It makes ear-wax wet, sticky, and honey-coloured. It also produces colostrum for breast feeding. People with this gene need to use deodorant to avoid smelling bad, unlike some Asians.
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rs17822931, 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. The ABCC11 protein helps transport small molecules across apical membranes such as those in apocrine secretory cells. This SNP determines wet vs dry earwax as well as sweat production, and it is also associated with lipid secretion. It is commonly (T;T) for Asians and (C;C) for Europeans and Africans. A study of deodorant usage in a large (17,000+) population showed that rs17822931(T;T) individuals were at least 5-fold less likely to use deodorant, consistent with them being 'genotypically nonodorous'. Although not statistically significant, there was some evidence for a heterozygote effect, implying that individuals with a (C;C) genotype for this SNP were l...
2x increased risk for periodontitis
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rs1537415 is an intronic SNP in the glycosyltransferase 6 domain containing 1 GLT6D1 gene. In a combined study of 1,758 Dutch and German subjects, the rs1537415(G) allele was associated with increased risk for periodontitis, at an odds ratio of 1.59 (CI: 1.36-1.86, p=5.5x10e-9).
Homozygous for 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. Polymorphisms affecting gene transcription and mRNA processing in pharmacogenetic candidate genes: detection through allelic expression imbalance in human target tissues. [PharmGKB:Curated Risk or phenot...
2.1x risk for Aspirin Induced Asthma. But possibly lower risk of intractible Grave's disease. Only tested in Japanese people. Might not be true for other races. May also be slightly protective against lupus (in Chinese people).
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rs4794067(C;C) and rs4794067(C;T) genotypes for the TBX21 gene are calculated to be at 2.15 fold higher risk (CI: 1.26-3.64) for aspirin-induced asthma (AIA) compared to rs4794067(T;T) homozygotes, based on a study of 72 patients vs 640 controls in a study of a Japanese population. Note that in this population, but perhaps not others, linkage disequilibrium exists between this SNP located upstream of the gene, rs4794067, and a common synonymous SNP located in the first exon, rs2074190, with a predictive accuracy of 92%. On the other hand, rs4794067(C;C) may greatly decrease the risk of lupus if rs17250932(C;C) is also present (at least in Chinese people). And those 2 SNPs also reduce the risk of intractable Graves' disease (at least in Japanese people).
Normal risk for Childhood Asthma.
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rs7216389, a SNP in the ORMDL3 gene on chromosome 17q21, was associated with susceptibility to childhood asthma in a study of ~1,000 British patients. The variation appears to be linked to altered levels of the ORMDL3 mRNA, which was shown in a cohort study of ~5,000 British and German patients to be correlated to childhood asthma. A large study of Scottish asthma patients replicated these results, finding that a single copy of the T allele conferred an odds ratio of 1.50 (CI: 1.24-1.81) and 2 copies conferred an odds ratio of 2.11 (CI: 1.71-2.61), respectively. [PharmGKB:Non-Curated GWAS Results: Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma (Initial Sample Size: 994 cases, 1,243 controls; Replication Sample Size: 2,320 cases, 3,301 controls; Ri...
Magnitude: 1.7
NAT2 slow metabolizer
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
Haplogroup I1 (Y-DNA)
All available markers match for Haplogroup I1 (Y-DNA) subclade of 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. You also must match gs196 for Haplogroup I (Y-DNA). 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.
Magnitude: 1.7
possible low pain sensitivity
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
possible high pain sensitivity
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
1.7x 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: 1.6
Haplogroup I (Y-DNA); 50% higher age-adjusted risk of coronary artery disease?
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...
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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23andMe blog rs2736100 C 1.27 Glioma Lung cancer susceptibility locus at 5p15.33. Common genetic variants on 5p15.33 contribute to risk of lung adenocarcinoma in a Chinese population. Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility. Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study. Role of 5p15.33 (TERT-CLPTM1L), 6p21.33 and 15q25.1 (CHRNA5-CHRNA3) variation and lung cancer risk in never-smokers. Individuals susceptible to lung adenocarcinoma defined by combined HLA-DQA1 and TERT genotypes. New insights into susceptibility to glioma. Replication of lung cancer susceptibility loci at chromosomes 15q25, 5p15, and 6p21: a pooled analysis from the International Lung Cancer Consortium. Evaluatio...
Magnitude: 1.6
Frequency: 49.2%
References:1
Frequency: 49.2%
References:1
1.6x increased breast cancer risk for women over 60
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rs11523871, also known as 124A>C or Thr42Pro, is a SNP in the Deleted in Malignant Brain Tumors 1 DMBT1 gene. For more information about increased breast cancer risk for this SNP, see the SNPedia entry for rs2981745, to which it is tightly linked.
1.6x increased risk for breast cancer in females over 60
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rs2981745, also known as -93C>T, is a SNP in a gene known as Deleted in Malignant Brain Tumors 1 DMBT1. The (overly descriptive?) name refers to the hypothesis that this gene has a role as a tumor suppressor. A study of 1,195 BRCA1/2 mutation negative German breast cancer families and 1,466 unrelated German controls concluded that rs2981745(T) carriers over the age of 60 are at increased risk for breast cancer, with an odds ratio of 1.66 (CI: 1.21-2.29, p=0.0017). rs2981745 was also said to be tightly linked to rs11523871, which showed the same odds ratios in this study.
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 an increased risk of schizophrenia. A network of dopaminergic gene variations implicated as risk factors for schizophrenia. Family based association study of pediatric bipolar disorder and the dopamine transporter gene (SLC6A3). Genome-wide and candidate gene association study of cigarette smoking behaviors. Financial and psychological risk attitudes associated with two single nucleotide polymorphisms in the nicotine receptor (CHRNA4) gene. Two loci control tuberculin skin test reactivity in an area hyperendemic for tuberculosis.
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.
Normal risk of developing bladder cancer. This is the normal risk of bladder cancer, particularly in Europeans and in people who already have tumors with low risk of progression.
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rs710521 is a SNP located in chromosome region 3q38, near the TP63 gene. A study ultimately totaling over 4,000 bladder cancer patients of European ancestry (and 40,000 controls) concluded that individuals carrying two copies of rs710521(A) were at 1.4x increased risk (allele-specific odds ratio = 1.19, p = 1 x 10e-7) for the disease. An additional 1,425 bladder cancer patients, supplemented by a meta-analysis of 5,695 additional cases (and 40,000+ controls), did replicate a (somewhat) increased risk associated with the rs710521(A) allele. The overall odds ratio was 1.18 (OR: 1.12 - 1.25, p < 0.0001). Another study in Chinese populations did not find an increased risk of bladder cancer for this SNP. [PharmGKB:Non-Curated GWAS Results: Sequence variant on 8q24 confers susceptibility to ...
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 Asparagus Metabolite Detection [GWAS:Common traits (Other)]
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 G allele was associated with a decreased risk of schizophrenia.
1.4x 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]
1.4x higher risk for multiple sclerosis
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rs4959039 is a SNP located within the Class I HLA-G region of chromosome 6. Independently of the influence of the (nearby) HLA-DRB1*1501 allele, the rs4959039(G) was shown to be associated with increased risk for multiple sclerosis in a study of ~2,300 patients.
1.4x higher risk for glioma development; but this is the common allele
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23andMe blog rs6010620 G 1.28 Glioma [OMIM:?] [GWAS:Glioma]
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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Variation in the ATP-binding cassette transporter 2 gene is a separate risk factor for systemic lupus erythematosus within the MHC. [OMIM:PEPTIDE TRANSPORTER PSF2 POLYMORPHISM]
Magnitude: 1.3
Frequency: 55.8%
References:8
Frequency: 55.8%
References:8
Normal risk (about 0.1%) for Ankylosing Spondylitis. Normal, but still very low, risk (1 in a thousand) of the rare autoimmune disease that causes inflammation of the spine and joints. Based on preliminary research.
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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). Note that the text description (but not the result) at 23andMe is wrong. It is the uncommon T allele that gives protection. Association of an ERAP1 ERAP2 haplotype with familial ankylosing spondylitis. Investigating the genetic association between ERAP1 and ankylosing spondylitis. Serum cytokine receptors in ankylosing spondylitis: relationship to inflammatory markers and endoplasmic reticulum aminopeptidase polymorphisms. ERAP1 polymorphisms and haplotypes are associated with ankylosing spondylitis susceptibility and functional severity in a Spanish population. Associations between ERAP1...
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]
harmless ancestral galactosemia variant carrier This variant is evolutionarily ancestral, and in vitro studies fail to support an impact of this variant on enzyme activity.
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[OMIM:GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; GALT]
1.2x higher risk for glioma development
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Associated with glioma risk. Genetic causes of glioma: new leads in the labyrinth. [GWAS:None]
Magnitude: 1.2
Frequency: 55.8%
References:4
Frequency: 55.8%
References:4
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.]
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).
The (A;G) genotype averages 2.8 PIQ points higher than the (G;G), but averages 2.84 PIQ points lower than (A;A) genotype
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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). Measures of Intelligence
Magnitude: 1.1
Frequency: 100.0%
References:1
Frequency: 100.0%
References:1
Normal (higher) blood pressure. Almost all white people and a majority of non-white people have this normal version. But it isn't as good as the other rare mutant version which would have lowered blood pressure. Tested in Asians. They had an average blood pressure of 127.4/80.1 with this Allele.
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The minor (G) allele of SNP rs10495584 was associated with lower mean systolic and diastolic blood pressures in men (121.1 +/- 14.2 and 76.3 +/- 10.2 mm Hg vs. 127.4 +/- 15.2 and 80.1 +/- 10.5 mm Hg, P = 0.002 and 0.007, respectively), but not in women (P > 0.05), and remained significant after correction for numerous other factors. However, its effect may be caused by a nearby, tightly linked SNP, rs11524.
very slightly increased risk (1.05) for breast cancer
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This SNP, also known as S707P, a variant in the ATM gene, is 1 of 25 SNPs reported to represent independently minor, but cumulatively significant, increased risk for breast cancer. For details of all 25 SNPs in this group, along with the two methods used to calculate overall risk estimates for breast cancer, refer to the SNPedia breast cancer entry. For this particular SNP, the risk (minor) allele is (C). Another large meta-analysis published in 2011, comprising 26,000+ breast cancer cases and almost 30,000 controls from 23 studies in the Breast Cancer Association Consortium, found average odds ratios of 1.05 for heterozygotes and 1.51 for homozygotes of each of 5 ATM gene SNPs, of which this is one.
Normal risk of testicular cancer.
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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: 1.14–1.64; OR = 1.39, CI: 1.16–1.66, 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]
higher bone mineral density in postmenopausal Spanish women
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rs7771980, also known as -1025T>C, is a SNP in the RUNX2 gene, which encodes an osteoblast-specific transcription factor involved in osteoblast differentiation and ossification. This SNP has been reported to be significantly associated with bone mineral density (BMD; and thus osteoporosis in several studies, but with different correlations. In a study of 821 Spanish postmenopausal women, rs7771980(C;T) women had higher mean adjusted femoral neck bone BMD values than those bearing the (T;T) genotype. In a study of 729 postmenopausal Korean women, the significant association found was that (C;C) women showed a significant association with reduced lumbar spine BMD and proximal femur sites compared with (C;T) or (T;T) subjects.
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.
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Heterozygotes for SNP rs11362, located in the DEFB1 gene, are reported to be at increased risk for colonic Crohn's disease - but not the ileal or ileocolonic forms of the disease - based on a study of 190 Caucasians. The odds ratio is 2.393 (CI: 1.18-4.87, p=0.02). G-20A rs11362(A;G) 2.4x risk colonic and ileocolonic Crohn's disease but no association was detected for the ileal localization
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]
Less likely to think cilantro tastes like soap
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rs7107418 G allele is a proxy for rs72921001 A allele. rs72921001 A allele associated with lower chance of thinking cilantro tastes like soap. OR=.81 per A allele. http://blog.23andme.com/23andme-research/cilantro-love-hate-genetic-trait/
normal suicide risk See Genetic polymorphisms in the SCN8A gene are associated with suicidal behavior in psychiatric disorders in the Chinese population
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Genetic polymorphisms in the SCN8A gene are associated with suicidal behavior in psychiatric disorders in the Chinese population.
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: 2.29–4.13; OR = 3.07, CI = 2.29–4.13, 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:?]
Possibly more 'Insistence on Sameness' on ADI-R test.Possibly increased FTND nicotine dependence.[http://www.ncbi.nlm.nih.gov/pubmed/22309839?dopt=Abstract
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rs167771 was significantly associated with autism spectrum disorder in a study of 144 patients. G allele associated with increased extra-pyramidal symptom risk as a result of risperidone treatment in a study of 321 psychiatric inpatients (81 presenting with EPS and 189 without) [PharmGKB:Curated Risk or phenotype-associated allele: G. Phenotype: The G variant of rs167771 was associated with increased risk for extrapyramidal symptoms in psychiatric patients receiving risperidone. Study size: 132. Study population/ethnicity: Patients with Schizophrenia or Bipolar disorder receiving antipsychotics; Caucasians; Spain; Catalonia. Significance metric(s): OR = 3.3; p = 0.00013. Type of association: PD.]
Magnitude: 1
Frequency: 86.4%
References:0
Frequency: 86.4%
References:0
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)]
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 23andMe blog discussion Malaria Resistance (Duffy Antigen) [PharmGKB:Curated A...
Magnitude: 0.1
normal pain sensitivity
You probably experience typical sensitivity to pain according to See also gs232, gs234, and gs235
Magnitude: 0
one or more copies of a test CNV
you have one or more copies of the CNV discussed at . see also gs218 tested via at least rs16889859(-;-)