These seem interesting, but have not been flagged as clearly Good or Bad
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Magnitude: 4
Male
Male.
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, 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. Another study () has concluded that almost individuals carrying the A111T variant can trace ancestry back to a single person who most likely lived at least 10,000 years ago. 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 * rs25...
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
you will lose 2.5x as much weight on a low fat diet
You are part of group of 39% of all people. Source: http://rockstarresearch.com/these-5-genes-predict-what-kind-of-diet-and-exercise-is-best-for-your-body-2/ and http://www.faqs.org/patents/app/20100136561#b See also gs281, gs282, gs283, gs284
Magnitude: 2.2
Light hair color for europeans
You have one of the SNPs linked to light color hair. *rs12821256(C;C) *rs35264875(T;T) *rs12896399(G;G)
Carrier of one CYP1A2*1F allele; Slow Caffeine Metabolizer. One copy of the slow caffeine metaboliser SNP, and one copy of the fast version. This makes you more strongly affected by drinking coffee, as caffeine is broken down slower in the liver. Supposedly this increases the risk of heart attacks, although other studies show caffeine is generally good for the heart. It also makes caffeine more effective at preventing Breast Cancer, Alzheimer's Disease, and Parkinson's disease. 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
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
You might have two short form 5-HTTLPR.
You might have two short-form 5-HTTLPR (serotonin-transporter-linked polymorphic region). Variations in the region have been extensively investigated in connection with neuropsychiatric disorders. Identification of tag haplotypes for 5HTTLPR for different genome-wide SNP platforms
darker skin, eye and hair color is 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]
increased response to anesthetics
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rs1805007, known as Arg151Cys or R151C, one of several SNPs in the MC1R gene associated with red hair color (redheads), and in redheaded females, linked to being more responsive to the anesthetics pentazocine, nalbuphine, and butorphanol, often used by dentists The risk allele is rs1805007(T), compared with the wild-type rs1805007(C) allele. The risk allele has also been reported in several studies to be associated with increased risk for melanoma. For example, an odds ratio of 2.94 (CI: 1.04-8.31) has been reported for an Italian population , and similarly an odds ratio of 2.9 has been reported for a Polish population . Blog entry about designing melanocortin analogs specific to these genotypes. See also OMIM 155555.0004 Freckling [OMIM:SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2; SHEP2]...
2.90 ng/mL lower Vitamin B6 blood concentration
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This is one of the SNPs reported by NutraHacker. Genetics and genomics of human aging. [PharmGKB:Non-Curated The C allele of this SNP is associated with lower blood concentration of vitamin B6 (Combined studies of Tuscan Italians ( inCHIANTI:N =1175 and Progetto Nutrizione study:N = 687) found 1.45 ng/mL lower vitamin B6 per copy of C (p = 8.3 x 10 (-18)))] [OMIM:?] [GWAS:Folate pathway vitamins]
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...
Magnitude: 2
Frequency: 43.1%
References:13
Frequency: 43.1%
References:13
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....
more likely to be able to smell asparagus metabolites in urine 1.67x more likely than people with (G;G) to be able to smell the methanethiol produced after eating asparagus.
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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)]
Intermediate riser. Wakes up at a time between the AA and GG genotypes. Research also suggests, then you are also more likely to die on a morning, shortly before 11am. http://www.theatlantic.com/health/archive/2012/11/you-are-most-likely-to-die-at-11-am/265427/
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A common polymorphism near PER1 and the timing of human behavioral rhythms. Study showed that it had influence on wake-up times, as well as time of day that death occurs. Suggests that common (but unidentified) polymorphisms may be associated with a preference for daytime or nighttime activity. rs7221412 is not presently covered by 23andMe, but this SNP appears to sit in a haplotype block and is flanked by rs9914077 and rs2585408
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]
straighter hair
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rs499697 the minor, derived allele is associated with curlier hair curl, 0.13 points per G. [GWAS:Common traits (Other)]
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: 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
References:10
References:10
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.
straighter hair
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rs11803731, a SNP in the Trichohyalin gene (TCHH) gene, is estimated to account for 6% of the variance in hair morphology (ie hair curliness) based on a study of Australians of European ancestry. [OMIM:?] [GWAS:Hair morphology]
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
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
1.6x higher risk for diffuse gastric cancer
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rs2227692, also known as c.1162+162C>T, is a SNP in the SERPINE1 gene. A study of 612 Korean patients with gastric cancer concluded that the rs2227692 C/T and T/T genotypes had 1.6x greater risk for diffuse gastric cancer than the C/C genotype (p = .00084).
Magnitude: 1.5
HLA-B*1502?
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.
lower vitamin D levels
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rs2282679, located in the group-specific component (vitamin D binding protein) GC gene on chromosome 4p12, has been linked by several studies to vitamin D serum concentrations. In both studies, the allele associated with lower vitamin D, and thus the potential for vitamin D insufficiency, is rs2282679(C). Carriers of two such alleles have lower vitamin D than carriers of one allele, who in turn on average have lower vitamin D levels than rs2282679(A;A) individuals. A near-perfect proxy (i.e. substitute) for rs2282679 is reported to be rs4588. [GWAS:Vitamin D levels]
Magnitude: 1.5
Frequency: 16.8%
References:8
Frequency: 16.8%
References:8
slight increase (11 months) in avg age at menopause
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rs16991615 is a nonsynonymous SNP on chromosome 20. A case control study of ~2,000 women found that each rs16991615(A) allele was associated with an average increase in age at menopause of 11 months. This also meant that each rs16991615(G) allele yielded an odds ratio of 1.85 (CI: 1.51–2.2, p = 1.45 x 10e-9) of early menopause, defined as occurring before the age of 46. Overall, women homozygous for the 'early' alleles at all 4 SNPs found in this study were ~4 times more likely to undergo menopause early compared to women who had a total of 3 or less risk alleles. However, the ability to predict which women will actually undergo early menopause using these 4 SNPs is still low. * see also 23andMe blog [OMIM:?] [GWAS:Menarche and menopause (age at onset)]
ex-smokers at 2x higher risk for COPD; supplement with Vitamin D?
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A study of 414 (ex)-smokers older than 50 years concluded that vitamin D levels were reduced by 25% in rs7041](T;T) homozygotes (p<0.0001), and even after correction for age, gender and smoking history, they were also at increased risk for chronic obstructive pulmonary disease (COPD; odds ratio 2.11, CI: 1.20-3.71, p=0.009). They conclude that since vitamin D deficiency occurs frequently in COPD and correlates with its severity, vitamin D supplementation may be warranted in patients with severe COPD, and especially in those carrying rs7041(T) alleles. [OMIM:?]
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 ...
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. 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.
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...
One copy of CYP2A6*5 non-functioning variant; impaired nicotine metabolism
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rs5031017 in the CYP2A6 gene, also known as G479V, 1436G>T or 6582G>T, the T allele indicates the CYP2A6*5 inactive form of the gene. reports that poor metabolizers (such as those with inactive forms of CYP2A6), among male smokers and compared to normal smokers, smoked fewer cigarettes, took longer to smoke regularly, and if they had stopped smoking, waited a shorter period of time before making the decision. Unfortunately, this group also had a lower likelihood of smoking cessation.
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.
1.3x 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).
1.3x increased risk for preeclampsia in most populations Note that 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.
Magnitude: 1.3
Frequency: 88.5%
References:1
Frequency: 88.5%
References:1
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]
1.2x increased risk for ovarian cancer
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rs2072590 is a SNP on chromosome 2q31, in a noncoding region ~5 kb distal to the HOXD3 gene and ~10 kb proximal to HOXD1. A genome-wide association study ultimately including over 10,000 ovarian cancer patients found statistically strong (p = 3.8 × 10e?14) evidence for slightly elevated risk associated with the rs2072590(T) allele, with an odds ratio of 1.20 (CI: 1.14–1.25) as calculated for the serous subtype (of ovarian cancer), though it was significant for the other subtypes as well. [GWAS:None]
0.75x (reduced) risk for metastasis in LN-/ER+ breast cancer patients
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rs9306160, also known as Pro436Leu, is a SNP in the ribosomal RNA processing 1 homolog B RRP1B gene. In a study of 1,725 LN=/ER+ breast cancer patients, carriers of a rs9306160(T) allele showed a reduced metastasis risk compared to rs9306160(C;C) patients. This association was statistically significant for both disease-free survival (DFS) and metastasis-free survival (MFS) in multivariate analysis [DFS hazard ratio 0.75, CI: 0.60–0.94, p=0.013), MFS HR 0.70, CI: 0.54–0.91, p=0.009) and overall survival (HR 0.78, CI:0.59–1.03, p=0.082)]. This study also found that rs9306160 can be combined with an independent predictor of metastasis free survival, rs2448490, to yield an even stronger prognostic. Specifically, the risk for developing distant metastasis was about 2.5-fold lower (hazard ratio ...
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). A 2013 study published by the American Headache Society reports significant influence of rs1835740, LRP1 rs11172113 and PRDM16 rs2651899 polymorphisms on migraine susceptibility in the Northern Indian population. Genome-wide-associated variants in migraine susceptibility: a replication study from North India. [GWAS:None]
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
Lower risk of Aspirin Induced Asthma. Normal (higher) risk of lupus and intractable Grave's Disease. This is the normal version. It doesn't cause Aspirin Induced Asthma, but it doesn't reduce the risk of lupus or Grave's disease either like the rare version does.
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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).
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.
Normal C-Reactive Protein levels. Very slight (x1.05) increase in overall risk for cancers. This causes a median hsCRP Level of 1.88 mg/L in women. Strangely this was associated with a slightly higher overall cancer risk (in Finnish people).
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rs1892534 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 the rs1892534(A) allele was not likely to be causative (relative to cancer), it is associated with increased risk for cancer overall. The odds ratio for 1 or 2 such alleles was 1.05 (CI: 0.90 - 1.23) and 1.2 (CI: 1.01 - 1.42) overall. Two other CRP SNPs (rs1169300 and rs2464196) were specifically associated with increased lung cancer risk. CRP SNPs were not associated with colorectal, prostate or breast cancer risk. [PharmGKB:Curated GWAS Results: Loci Related to Metabo...
Magnitude: 1
CYP2D6*39
CYP2D6*39 normal metabolism
may be associated with ADHD
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T allele may be associated with Attention deficit hyperactivity disorder.
reported to influence perception of pain
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rs6746030 is a SNP in the sodium channel Nav1.7 SCN9A gene. In five cohorts tested, totaling 1,277 individuals, the rarer rs6746030(A) allele was associated with increased pain (p=0.0001).
Magnitude: 1
Frequency: 23.0%
References:3
Frequency: 23.0%
References:3
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 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.
normal Eosinophilic esophagitis (EE) is an emerging worldwide disease, as documented by recent case series from Switzerland, Australia, Canada, Japan, England, and the US (1–4). Of concern, EE appears to be a growing health problem with an annual incidence of at least 1 in 10,000 children (5). The primary symptoms of EE (chest and abdominal pain, dysphagia, heartburn, vomiting, and food impaction) are also observed in patients with chronic esophagitis (CE) including gastroesophageal reflux disease (GERD) (6–8). However, in contrast to GERD, EE occurs more frequently in males (80%), appears to have a common familial form, has a high rate of associated atopic disease (70%), and is typically associated with a normal pH probe recording of the esophagus (5, 9, 10) In the 3? untrans...
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rs2302009 is a SNP located in the 3' untranslated region of the CCL26 gene. This gene (and this SNP) were discovered to be strongly associated with 117 patients with eosinophilic esophagitis, a form of esophagitis (or inflammation of the esophagus) that shares many symptoms with gastroesophageal reflux disease (GERD). rs2302009(G) is the risk allele. The rs2302009(G;G) homozygous genotype is the most predisposed to developing eosinophilic esophagitis (odds ratio 4.55, CI 1.71–12.39). The heterozgyote (rs2302009(G;T)) genotype's risk was indistinguishable statistically from the normal rs23020099(T;T) genotype. [OMIM:ESOPHAGITIS, EOSINOPHILIC]
Higher serum levels of vitamin D
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Levels of 25-hydroxyvitamin D in familial longevity: the Leiden Longevity Study. Concluded that familial longevity was associated with a lower vitamin D levels and a lower frequency of the allelic variation in the CYP2R1 gene. Genome-wide association study of circulating vitamin D levels. This SNP is part of CYP2R1, which encodes a key C-25 hydroxylase that converts vitamin D3 to an active vitamin D receptor ligand. This SNP, along with rs2282679, rs3829251, and rs6599638 accounted for 2.8% of the variance in circulating vitamin D levels. [GWAS:Vitamin D levels]
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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]
normal risk of developing Parkinson's Disease
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People with two copies of the T allele at rs6812193 appear to have a slightly lower risk of Parkinson's disease. The same researchers identified another risk allele for Parkinson's disease at rs11868035. plos [GWAS:Parkinson's disease]
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.
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)]
possibly higher glaucoma risk? glaucoma risk likely to actually be based on nearby rs3825942
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rs1048661, also known as R141L, a SNP causing an amino acid change in the lysyl oxidase 1 LOXL1 gene, has been linked to exfoliation glaucoma. This form of glaucoma causes up to 10% of the cases of blindness in many countries, including the US. [Science DOI: 10.1126/science.1146554] From the abstract of this study: 'Approximately 25% of the general population is homozygous for the highest risk haplotype and their risk of suffering XFG (exfoliation glaucoma) is over 100 times that of those only carrying low-risk haplotypes.' The risk allele for this SNP is rs1048661(G), and it confers a estimated relative risk (by itself) of 3.04. The odds ratio is 2.46 (CI 1.91-3.16). [Note that the (G) allele is actually quite common in most European populations.] However, a meta-analysis published in 201...
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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]
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]
Magnitude: 1
References:0
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Less likely to think cilantro tastes like soap
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A allele associated with lower chance of thinking cilantro tastes like soap. OR=.81 per A allele. http://arxiv.org/abs/1209.2096 http://blog.23andme.com/23andme-research/cilantro-love-hate-genetic-trait/ http://haldanessieve.org/2012/09/11/a-genetic-variant-near-olfactory-receptor-genes-influences-cilantro-preference/ rs7107418 G allele is a proxy for rs72921001 A allele. http://blog.23andme.com/23andme-research/cilantro-love-hate-genetic-trait/
ambiguous under build37 this was a minus strand ambiguous flip snp. now it has been flipped to plus, causing problems with interpretation.
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rs28997576, aka Cys557Ser or C557S, is a missense variant in the BRCA1 associated RING domain 1 BARD1 gene on chromosome 2. Researchers suggest that BARD1 Cys557Ser (rs28997576) is an ancient variant that confers risk of single and multiple primary breast cancers, and this risk is amplified in carriers of the BRCA2 999del5 (codon 257, exon 9) mutation. For just the rs28997576(C;G) individuals, the reported odds ratio was 1.82 (CI: 1.11-3.01, p = 0.014), but if the person also carries a rs80359671 or rs80359675 BRCA2 999del5 variant, the odds ratio was reported as 3.11 (CI: 1.16-8.40, p = 0.046). Family history was associated with (slightly) increased risk. In 300 breast cancer cases in South Americans, rs28997576(C;G) was associated with increased breast cancer risk if, and only if, there ...
Magnitude: 0.1
normal pain sensitivity
You probably experience typical sensitivity to pain according to See also gs232, gs234, and gs235