These seem interesting, but have not been flagged as clearly Good or Bad
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Magnitude: 4
Male.
Magnitude: 3
References:1
References:1
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rs78378222[C] (odds ratio (OR) = 2.36, P = 5.2 × 10?17). rs78378222 is in the 3? untranslated region of TP53 and changes the AATAAA polyadenylation signal to AATACA, resulting in impaired 3?-end processing of TP53 mRNA. Investigation of other tumor types identified associations of this SNP with prostate cancer (OR = 1.44, P = 2.4 × 10?6), glioma (OR = 2.35, P = 1.0 × 10?5) and colorectal adenoma (OR = 1.39, P = 1.6 × 10?4). However, we observed no effect for breast cancer, a common Li-Fraumeni syndrome tumor (OR = 1.06, P = 0.57, 95% confidence interval 0.88–1.27).
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
Frequency: 0.0%
References:2
Frequency: 0.0%
References:2
2.6x increased risk for sudden cardiac death in Caucasians
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rs16847548 and rs16856785 strongly associated with QT interval Based on a large study of 19,000+ adults, SNPs rs10494366, rs4657139 and rs16847548 were significantly associated with adjusted QT interval in whites but not in African-Americans. The relative hazard of sudden cardiac death (SCD) associated with each rs16847548(C) allele was 1.31 (CI: 1.10 - 1.56, p=0.002). rs12567209 was also independently associated with SCD in whites (relative hazard 0.57, CI: 0.39 - 0.83, p=0.003).
9.1x risk for AMD, but replication is lacking A study in 2007 identified this and two other variants (rs10490924 and rs11200638) as indicating a 9x risk of age related macular degeneration. The other two snps are now well replicated, but replications of the snp you have are still lacking.
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rs4146894, a SNP in the PLEKHA1 gene, is associated with increased risk for age related macular degeneration based on a study of 118 Caucasians. The odds ratio for risk of AMD was 9.1 (CI: 4.0-20.9, p=0.0001) for the AA genotype and 2.6 (CI: 1.3-5.5, p=0.04) for the AG genotype. The risk is increased further by the status of two other chromosome 10 SNPs, rs10490924 and rs11200638.
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...
1.2x risk of coronary artery disease
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rs599839 and rs4970834 explain about 1% of the variation in circulating LDL-cholesterol levels. 'When we look at this particular genetic variance, of all the cholesterol variation among the population, 1% of it can be attributed to this particular locus,' said Sandhu. 'This is equivalent to more established genes for LDL regulation, particularly APOE.' rs646776 also linked. spittoon coronary artery disease and heart attack SNP Risk Version Effect *rs646776 T 1.19 *rs17465637 C 1.14 *rs1746048 C 1.17 *rs6725887 C 1.17 *rs11206510 T 1.15 *rs3184504 T 1.13 *rs2306374 C 1.15 *rs3782886 C 1.44 [PharmGKB:Non-Curated Phenotype: In a GWAS, this SNP was significantly associated with plasma concentrations of apolipoprotein B and LDL-C . Study size:6382. Study population/ethnicity: Caucasian women. ...
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...
3.5x risk of hep-cancer in cirrhosis patients; higher glioma risk; 3x higher gallbladder cancer risk in females
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rs4444903 is a SNP, also known as +61, located in the promoter region of the epidermal growth factor EGF gene that influences the amount of EGF produced. The rs4444903(G) allele appears to produce higher amounts of EGF than the (A) allele. A study of 2 Caucasian populations of patients with alcoholic cirrhosis indicates that, for these patients, the presence of the risk allele rs4444903(G) increases the chances of developing hepatocellular carcinoma (liver cancer). After adjusting for age, sex, race, etiology, and severity of cirrhosis the number of (G) copies led to an odds ratio for either (G;G) or (A;G) genotypes versus the (A;A) genotype of 3.49 (CI: 1.29-9.44, p=.01). In another study, analysis of 197 glioma patients showed that the rs4444903(G) allele conferred higher risks for gliom...
For kidney donors, 2x more likely to result in allograft rejection
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rs4730751 is a SNP in the gene for CAV1, a protein that is involved in tissue fibrosis as well as vascular proliferation. In a study of 785 white kidney transplant donors and their respective recipients, kidneys from rs4730751(A;A) donors were significantly more likely to fail the transplant, compared with those from donors carrying one or two of the more common rs4730751(C) alleles. The hazard ratio was 1.97 (CI: 1.29-3.16, p = 0.002). Overall, the graft failure rate for donor kidneys with the (A;A) genotype was 38.6%, compared with ~22% for donor genotypes (A;C) or (C;C).
if testicular cancer patient, 5x poorer response to bleomycin chemotherapy Testicular cancer patients may be treated with bleomycin, a cytotoxic drug that is essential component of chemotherapy regimens for this cancer, officially known as disseminated testicular germ-cell cancer (TC). rs1050565 is a SNP in the BLMH gene. This gene encodes a protein that can inactivate bleomycin. Based on a study of 300 TC patients treated with bleomycin, a testicular cancer patient with a rs1050565(G;G) genotype has an odds ratio of 4.97 (CI: 2.17 - 11.39) for TC-related death compared to (A;G) or (A;A) genotypes. The rs1050565(G;G) genotype also shows a higher prevalence of early relapses. Note that this gene affects bleomycin metabolism; the GG does not mean that a person is more likely to get testicula...
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Testicular cancer patients may be treated with bleomycin, a cytotoxic drug that is essential component of chemotherapy regimens for this cancer, officially known as disseminated testicular germ-cell cancer (TC). rs1050565 is a SNP in the BLMH gene. This gene encodes a protein that can inactivate bleomycin. Based on a study of 300 TC patients treated with bleomycin, a testicular cancer patient with a rs1050565(G;G) genotype has an odds ratio of 4.97 (CI: 2.17 - 11.39) for TC-related death compared to (A;G) or (A;A) genotypes. The rs1050565(G;G) genotype also shows a higher prevalence of early relapses. [PharmGKB:Curated Testicular germ cell cancer patients carrying the homozygous G/G allele of this variant showed reduced survival and higher prevalence of early relapses after treatment with...
Magnitude: 2
Frequency: 10.9%
References:5
Frequency: 10.9%
References:5
1.4x increased risk for prostate cancer
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rs10090154 is a SNP in chromosome 8q24 'region 1', associated with increased risk for prostate cancer. The odds ratio for the (T) risk allele were 1.42 (CI: 1.07-1.87, p=0.014), and they were not significantly different between Caucasians and African-Americans in this study of ~500 patients. In follow-up studies looking at disease severity (and not just overall risk), this SNP is reported to account for the risk (from region 1) of advanced prostate cancer. Note that a meta-analysis across 10+ studies, including over 15,000 prostate cancer cases, reported the risk for a different SNP (rs1447295) representing the same region, 'region 1', of this chromosome. [OMIM:?]
Magnitude: 2
Frequency: 12.5%
References:1
Frequency: 12.5%
References:1
>1.26x increased risk for heart disease
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rs17228212 is a SNP found to be associated with heart disease by the German MI (Myocardial infarction) Family Study group in two populations. The odds ratio per allele is 1.26 (CI: 1.11-1.44, p=0.0178). rs599839, rs4970834 and rs17228212 associated with non-HDL cholesterol
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]
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...
3.2x risk for AD
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rs9886784, a intergenic SNP on chromosome 9, is reported to influence the risk for Alzheimer's disease based on a study of ~1100 Canadian patients. THe risk allele is (A); the odds ratio is 3.23 (CI: 1.79 - 5.84).
2x higher risk for post-operative nausea
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rs2165870 is a SNP in or near the promoter region of the muscarinic acetylcholine receptor 3 subtype CHRM3 gene on ch 1. A GWAS study of 300+ patients exhibiting post-operative nausea found that carriers of rs2165870(A) alleles were at 2.3x higher risk for nausea (CI: 1.36 - 4, p = 0.002). rs2355230 is said to be a perfect proxy (r2 = 1) for rs2165870.
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: 43.1%
References:6
Frequency: 43.1%
References:6
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 [GWAS:Common traits (Other)]
1.2x higher risk for hypertension
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rs7961152 has been reported in a large study to be associated with high blood pressure. The risk allele (oriented to the dbSNP entry) is (A); the odds ratio associated with heterozygotes is 1.16 (CI 1.01-1.32), and for homozygotes, 1.47 (CI 1.25-1.74). This SNP was just about the only one tested to replicate as associated with hypertension in a study of 7,551 Koreans patients, with an odds ratio of 1.28 (CI: 1.012-1.636, p=0.04) but only in one of two cohorts.
1.3x increased coronary artery disease risk
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rs1333048 increases susceptibility to coronary artery disease 1.30 times for heterozygotes (AC) and 1.54 times for homozygotes (CC) rs1333048 2x risk for periodontitis and a confirmation of coronary heart disease spittoon [OMIM:?]
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)]
1.4x risk 1.4x higher risk for coronary artery disease
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rs7250581 has been reported in a large study to be associated with heart disease, in particular, coronary artery disease. The risk allele (oriented to the dbSNP entry) is (G); the odds ratio associated with heterozygotes is 1.06 (CI 0.79-1.43), and for homozygotes, 1.40 (CI 1.05-1.86).
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.
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).
>3x increased testicular cancer risk for men found in 65% of caucasians but linked 3x higher risk of testicular cancer than the (G;G) form.
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Testicular germ cell tumor risk I('TGCT'; i.e. testicular cancer risk) was increased 3x per copy of the major (A) allele at rs3782179 and rs4474514 (OR = 3.08, CI: 2.29–4.13; 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. SNPs from the same gene were also implicated in testicular cancer risk in a study of 730 cases and 1,435 controls from the UK and replicating associations in a further 571 cases and 1,806 controls. [OMIM:?]
Increased risk of hearing loss 5.2x 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: 1.6
A single paper suggests that chinese with the haplotype rs8003602(C) and rs3783320(G) may be at higher risk of Alzheimer's disease. From the abstract alone it is unknown what the risk is, but until shown othrwise, assume is is a very small increased risk such as 1.1x. implicates the haplotype rs8003602(C) and rs3783320(G) with Alzheimer's disease in Chinese subjects. See also gs230
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
A single paper suggests that chinese with the haplotype rs8003602(C) and rs3783320(G) may be at higher risk of Alzheimer's disease. From the abstract alone it is unknown what the risk is, but until shown othrwise, assume is is a very small increased risk such as 1.1x. implicates the haplotype rs8003602(C) and rs3783320(G) with Alzheimer's disease in Chinese subjects. Note that it is very possible you have no additional risk, due to a different but indistinguishable genotype due to unphased data. See also gs236
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.
Magnitude: 1.5
Frequency: 38.9%
References:6
Frequency: 38.9%
References:6
1.5x 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]
increased risk of schizophrenia in limited study
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Associated with schizophrenia in a study of Croatians. Due to the limited number and diversity of the studied population, more study is needed to confirm any link. The G allele was associated with an increased risk of schizophrenia.
1.7x higher risk of aggressive neuroblastoma
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Each G allele has been associated with an allelic odds ratio of 1.68 (p = 8.65 x 10(-18)) for risk of aggressive neuroblastoma. [OMIM:NEUROBLASTOMA]
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]
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]
Magnitude: 1.4
Frequency: 20.4%
References:0
Frequency: 20.4%
References:0
1.4x higher risk for colorectal cancer
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rs16888589 is a SNP on ch 8q23 near the EIFH3 gene, and it appears to be able to influence the amount of EIFH3 protein made. rs16888589 may have a causative role in increasing the risk for colorectal cancer; specifically, the minor (i.e. less frequent) rs16888589(G) allele is associated with more EIFH3 protein, in turn associated with more cancerous cell growth and invasiveness. In a statistical sense, the rs16888589(G) allele is associated with a 1.4 - 2 fold increase in risk. The authors of this study also conclude that several other nearby SNPs (rs16892766 and rs11986063) that have been statistically linked to higher colorectal cancer risk are part of a tightly linked haplotype with rs16888589, i.e. they are often inherited together, but these other SNPs are not likely to be causative s...
1.4x increased risk of SLE
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The rs2004640(A) allele had a higher frequency in SLE cases (0.385) than controls (0.321; odds ratio (OR) = 1.32, P = 0.0003). In combined analysis, including all seven independent cohorts from the three studies so far, robust and consistent associations of the rs2004640(A) allele with SLE were observed. The estimate of risk was OR = 1.44 (CI: 1.34-1.55), with an overall P = 1.85 x 10(-23) for the rs2004640(A) allele. The haplotype (rs2004640T-rs2280714A) involved in both the alternative splice donor site and the elevated expression of IRF5 also had a highly significant association with SLE (pooled, P = 2.11 x 10(-16)). Our results indicate that the genetic effect on the risk of SLE mediated by IRF5 variants can be generally accepted in both white and Asian populations. A meta-analysis com...
Magnitude: 1.4
Frequency: 44.2%
References:1
Frequency: 44.2%
References:1
1.4x increased risk for meningioma
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rs11012732 is a SNP in the MLLT10 gene on ch 10p12.31. A study of ~1,600 patients with meningioma, all of European ancestry, concluded that increased risk for the disease was associated with rs11012732(G) alleles. The odds ratio was 1.46 (p = 1.9 x 10e-14). A nearby SNP, rs12770228, was also linked to meningioma risk.
1.4x higher risk for glioma development; but this is the common allele
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spittoon rs6010620 G 1.28 Glioma [OMIM:?] [GWAS:Glioma]
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.
>1.2x increased risk for ALS
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rs2814707 is one of 2 SNPs from the ch 9p21.2 region associated in a large GWAS study with ALS risk, the other SNP being rs3849942. In this study, the reported odds ratio for rs2814707(A) was 1.22 (CI: 1.15 - 1.30, p = 4.72 x 10e-10). The odds ratio for the minor rs2814707(A) allele was 1.16 (p=7.45x10e-9). spittoon rs2814707(T) 1.16x odds of ALS rs12608932(C) 1.2x odds of ALS [PharmGKB:Curated This variant is significantly associated with the efficacy of anti-TNF treatment in rheumatoid arthritis (Adjusted P-value: 0.000002; OR: 5.2 (1.8, 16.7)). The study is a genome-wide association study using the Illumina HapMap300 SNP chip on 89 RA patients prospectively followed after beginning of anti-TNF therapy.] [OMIM:?]
normal
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Testicular germ cell tumor risk I('TGCT'; i.e. testicular cancer risk) was increased 40% per copy of the major (T) allele at rs4324715 and rs6897876 (OR = 1.37, CI: 1.14–1.64; 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]
>3x increased testicular cancer risk for men
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Testicular germ cell tumor risk I('TGCT'; i.e. testicular cancer risk) was increased 40% per copy of the major allele (C) 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]
Magnitude: 1.2
Frequency: 45.1%
References:5
Frequency: 45.1%
References:5
1.2x higher risk for ankylosing spondylitis
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rs10865331 is a SNP in chromosomal region 2p15. After initial GWAS reports linked this SNP to ankylosing spondylitis (AS), a follow-up study in 456 Spanish patients replicated the association between the rs10865331(A) allele and higher risk for AS (p = 0.039). In a 2010 report, the AA genotype was associated with 1.3x odds of ankylosing spondylitis, and the GG genotype with 0.8x odds, compared to the AG genotype. [OMIM:?] [GWAS:Ankylosing spondylitis]
1.2x 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...
very slightly increased risk (1.15) 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.
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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: 30.6%
References:2
Frequency: 30.6%
References:2
0.85x lower risk for migraines
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rs10166942 is a SNP on ch 2q37.1 in the TRPM8 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 rs10166942(C) allele was 0.85 (CI: 0.82 - 0.89, p = 5.5 x 10e-12). [GWAS:None]
very slightly higher risk for myocardial infarction
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rs2291834 is a SNP in the MIA3 gene. Several studies, most notably perhaps by deCode scientists, have shown a (very slightly) elevated risk for myocardial infarctions to be associated with the rs2291834(C) allele.
higher risk for Achilles tendinopathy?
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A study of 1418 African-American women and men from the Genetic Epidemiology Network of Arteriopathy study found a significant sex-specific interaction effect between rs679620, a SNP in the metallopeptidase 3 MMP3 gene and body mass index (BMI) in African-American women but not men (p = 0.0009). rs679620 appears to have a protective effect on diastolic blood pressure in women with high BMI, but surprisingly, it had the opposite effect on women with low BMI, resulting in higher diastolic BP. A relatively small study (~100 patients) found associations between risk for Achilles tendinopathy and SNPs in the MMP3 gene. For rs679620, the (G;G) genotype had an odds ratio of 2.5 (CI: 1.2 - 4.90, p = 0.010). An interaction resulting in increased risk for Achilles tendinopathy was also reported betw...
higher risk for Achilles tendinopathy?
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rs591058 is a SNP in the matrix metallopeptidase 3 MMP3 gene on ch 11. A relatively small study (~100 patients) found associations between risk for Achilles tendinopathy and SNPs in the MMP3 gene. For rs591058, the (C;C) genotype had an odds ratio of 2.3 (CI: 1.1 to 4.50, p = 0.023).
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.
~0.80x (lower) risk for late onset Alzheimer's disease
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rs6583817, also known as v311, is a SNP within an intron of the IDE gene, which encodes the insulin-degrading enzyme. Late onset Alzheimer's disease is a neurodegenerative condition in which the brain develops large numbers of extracellular senile plaques composed primarily of aggregated amyloid-B proteins as well as intraneuronal neurofibrillary tangles composed mainly of aggregated tau protein. One notable function of insulin-degrading enzyme is its ability to degrade amyloid-B and therefore to influence the amount of amyloid-B found in the brain. A study of ~3,000 patients (and an equal number of matched controls) found that carriers of one or two minor alleles, i.e. rs6583817(T), had ~2x higher levels of insulin-degrading enzyme (p < 10e-8), lower levels of amyloid-B, and a (slightl...
somewhat lower vitamin D levels
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rs2282679, located in the group-specific component (vitamin D binding protein) GC gene on chromosome 4p12, has been linked by several studies to vitamin D serum concentrations. In both studies, the allele associated with lower vitamin D, and thus the potential for vitamin D insufficiency, is rs2282679(C). Carriers of two such alleles have lower vitamin D than carriers of one allele, who in turn on average have lower vitamin D levels than rs2282679(A;A) individuals. A near-perfect proxy (i.e. substitute) for rs2282679 is reported to be rs4588. [GWAS:Vitamin D levels]
common, but 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:?]
Carrier for rs6994992(T;T) which one report has associated with both creativity and schizophrenia
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also known as SNP8NRG243177 Initial reports of a link to schizophrenia remain inconclusive. paper implicated in schizophrenia effects white matter density and integrity schizophrenia risk-associated The neuregulin 1 promoter polymorphism rs6994992 is '''not''' associated with neurocognition or chronic schizophrenia in a study of 738 patients T allele (in a per allele fashion) significantly associated with lateral ventricle volume in 95 first-episode schizophrenics points out that their result is that (T) was weakly associated with schizophrenia, however this is the opposite of the original association study where the C allele. [OMIM:NEUREGULIN 1; NRG1]
Magnitude: 0.8
No information regarding pain sensitivity. you were not recognized as gs234, gs233, or gs232.