Generated: 2008-05-22 14:36
Infile: C:\Users\andrew\Desktop\genome_Andrew_Yates_20080522130903.txt
| Genoset | ||
|---|---|---|
| gs101 This genoset predicts lactose tolerance |
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| Rarest | ||||||
|---|---|---|---|---|---|---|
| 0.0 | rs2072797(C;C) | |||||
| rs2072797, a SNP in the UNC84B gene also known as G671S, is associated with risk for developing Non-Hodgkin Lymphoma based on a study of 458 patients. The odds ratio is 1.50 (CI: 1.12-2.00, p<0.01). | ||||||
| 0.0 | rs3792876(C;C) | |||||
| rs7528684 rs3792876 and rs2268277 failed to showed a statistically significant association with rheumatoid arthritis rs3792876, a SNP in the SLC22A4 gene, has been associated along with rs2073838 (another SNP in the SLC22A4 gene) with an autoimmune disease, in this case, Crohn's disease, odds ratio = 2.1 (CI = 1.313.39), from 203 cases and 200 controls. The risk allele for rs3792876 appears to be (T). | ||||||
| 0.0 | rs2476601(A;A) | >2x risk for T1D, RA, Addison's | ||||
| This SNP, located in the PTPN22 gene and also known as R620W, or 1858C>T, may influence Rheumatoid Arthritis and other autoimmune diseases, including but not limited to, multiple sclerosis, Crohn's disease, celiac disease and type-1 diabetes. The risk allele (in dbSNP orientation) is rs2476601(A). Note that rs6679667 and rs2476601 are reported to be perfectly correlated, so SNP determination of one predicts the other. In an expanded follow-up study of >6,000 controls and 6,000 patients, the heterozygote odds ratio for type-1 diabetes for this SNP was recalculated to be 1.98 (CI 1.822.15). rs2476601 was confirmed in another 2007 study to be a risk factor for RA . * confirms the association of rs2476601 rheumatoid arthritis * two copies of the PTPN22 R620W allele more than doubles the ris... | ||||||
| 0.0 | rs17276358(G;G) | |||||
| [haplogroup:?] | ||||||
| 0.0 | rs16980391(A;A) | |||||
| [haplogroup:?] | ||||||
| 0.0 | rs16980586(G;G) | |||||
| [haplogroup:?] | ||||||
| 0.0 | rs17316007(A;A) | |||||
| [haplogroup:?] | ||||||
| 0.0 | rs2032596(C;C) | |||||
| [haplogroup:?] | ||||||
| 0.0 | rs16981311(C;C) | |||||
| [haplogroup:?] | ||||||
| 0.0 | rs2032598(T;T) | |||||
| [haplogroup:?] | ||||||
| 0.0 | rs2032673(T;T) | |||||
| [haplogroup:?] | ||||||
| 0.0 | rs17842518(G;G) | |||||
| [haplogroup:?] | ||||||
| 0.0 | rs4141886(A;A) | |||||
[haplogroup:CF] |
||||||
| [haplogroup:?] | ||||||
| 0.0 | rs16980588(G;G) | |||||
| [haplogroup:?] | ||||||
| 0.0 | rs2032609(C;C) | |||||
| [haplogroup:?] | ||||||
| 0.0 | rs17842387(A;A) | |||||
| [haplogroup:?] | ||||||
| 0.0 | rs16980598(G;G) | |||||
| [haplogroup:?] | ||||||
| 0.0 | rs2032607(C;C) | |||||
| [haplogroup:?] | ||||||
| 0.0 | rs2032680(A;A) | |||||
| [haplogroup:?] | ||||||
| 0.0 | rs16980396(T;T) | |||||
[haplogroup:F-R] |
||||||
| [haplogroup:?] | ||||||
| 0.0 | rs2032610(T;T) | |||||
| [haplogroup:?] | ||||||
| 0.0 | rs9786431(G;G) | |||||
| [haplogroup:?] | ||||||
| 0.0 | rs2032595(T;T) | |||||
[haplogroup:CR] |
||||||
| [haplogroup:?] | ||||||
| 1.7 | rs4877365(A;A) | |||||
| rs4877365 has been linked to Alzheimer's disease | ||||||
| 3.3 | rs662799(A;G) | |||||
| this snp prevents [http://www.medicalnewstoday.com/medicalnews.php?newsid=67543 weight gain from high fat diets]. rs662799 -1131T>C in APOA5 is present in approximately 13% of this population, modulates the effect of fat intake on BMI and obesity risk in both men and women. | ||||||
| 3.3 | rs7892900(C;C) | |||||
| [haplogroup:?] | ||||||
| 3.3 | rs16879498(C;T) | |||||
| [omim:RH-NULL HEMOLYTIC ANEMIA, REGULATOR TYPE] | ||||||
| 3.3 | rs17316910(G;G) | |||||
| [haplogroup:?] | ||||||
| 3.3 | rs17703883(C;C) | |||||
| The research paper suggests that the 3 snps rs17703883, rs12594287 and rs16964201 affect bone mineral density in men. | ||||||
| 3.4 | rs4660646(G;G) | |||||
| Suspected of reproducibility problems based on [http://www.kk.org/quantifiedself/2008/05/testing-genetic-test-chips.php end user analysis] *rs11149566 *rs4458717 *rs4660646 *rs754499 | ||||||
| 3.6 | rs2534636(T;T) | |||||
| [haplogroup:?] | ||||||
| 5.0 | rs806368(C;C) | |||||
| risk of the development of substance dependence significantly increased with the number of 'G' alleles at rs6454674 and SNP8;T/T genotypes had significant interaction effects (p = .0003 for comorbid DD and AD, .0002 for DD, and .007 for AD). SNP3 and SNP8 together exerted stronger genetic effects on SD than either did individually. The peak delta values among all the markers were seen for SNP3 and SNP8 (rs806368) | ||||||
| 5.0 | rs3816873(C;C) | |||||
| Also known as I128T MTP rare allele of the MTP I128T polymorphism may be protective against impaired glucose tolerance, type-2 diabetes | ||||||
| 6.7 | rs9264942(C;C) | 90% reduction in HIV viral load | ||||
The rs9264942(C;C) genotype is reported to be associated with a 90% reduction in viral load in HIV-infected individuals. See also rs9264942 and HIV. |
||||||
| This SNP (C/T) is in 5' region of the HLA-C gene, 35 kb away from transcription initiation in or around the HLA-C gene. 'People with this tiny sequence variation, dubbed rs9264942, appear to have up to 90% less virus in their systems than those who carry other polymorphisms. About 10% of Europeans appear to carry two copies of rs9264942, which leads to an average 90% viral load reduction. About 50% of Europeans carry one copy, which gives a 60% reduction. By comparison, less than 40% of people of African descent appear to carry a single copy of the polymorphism.' [http://www.newscientist.com/article/dn12297-genetic-variation-may-lower-hiv-load-by-90.html Genetic variation may lower HIV load by 90%] They are referring to the (C;C) genotype giving a 90% reduction and the (C;T) giving a 60% r... | ||||||
| 6.7 | rs1799724(C;T) | if ApoE4(-), 1.6x risk of AD; if (+), 6.6x risk | ||||
| rs1799724, a SNP in the tumor necrosis factor TNF gene, was found in a study of ~500 Caucasians to be both an independent risk factor for the development of Alzheimer's disease and also a modifier of the risk for individuals carrying ApoE4 alleles. On it's own, the rs1799724(T) allele led to an odds ratio of 1.63 (CI: 1.13-2.34, p=0.009). In carriers of ApoE4 alleles, the odds ratio changed from 2.92 (CI: 2.00-4.27) in the absence of rs1799724(T) to an OR of 6.65 (CI: 3.26-13.55, p=0.03) in its presence. | ||||||
| 6.7 | rs4794067(C;C) | 2.1x risk for AIA | ||||
| 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%. | ||||||
| 8.3 | rs7756992(G;G) | |||||
| rs7756992 significantly p = 0.0363 associated with type-2 diabetes in 1,630 Japanese subjects and in 1,064 controls 1,638 type 2 diabetes patients and 1,858 controls *rs7756992 non-significant T2D and normal glucose tolerant (NGT) individuals. (3,295 T2D and 3,595 NGT), strong associations with T2D were found for *CDKAL1 (OR(rs7756992) = 1.30[1.19-1.42], P = 2.3x10(-9)) *CDKN2A/2B (OR(rs10811661) = 0.74[0.66-0.82], P = 3.5x10(-8)) *IGFBP2 (OR(rs1470579) = 1.17[1.07-1.27], P = 0.0003) SNPs. T2D risk increased strongly when risk alleles, including the previously discovered T2D-associated TCF7L2 rs7903146 SNP, were combined (8.68-fold for the 14% of French individuals carrying 18 to 30 risk alleles with an allelic OR of 1.24) | ||||||
| 8.3 | rs6897690(A;A) | |||||
| schizophrenia rs7715300 (p = 0.001) and rs6897690 (p = 0.032) | ||||||
| 8.3 | rs11868035(A;A) | 1.19x increased risk for T2D | ||||
| rs11868035 is one of several SNPs associated with the SREBF1 gene that show a modest association with type-2 diabetes. A study of ~2,000 Caucasian patients (and 10,000+ controls) led to an odds ratio of 1.19 (CI: 1.07-1.33, p=0.002) for the minor (risk) allele, rs11868035(A), in the orientation as in dbSNP. | ||||||
| 8.3 | rs569108(C;T) | 3x risk | ||||
| rs569108, a SNP in the MS4A2 gene, has been linked in a Japanese population to a predisposition to childhood asthma, with an odds ratio of 3 [PMID 8842731, PMID 8968765]. The risk allele in dbSNP orientation is (C). [Note: no (C;C) homozygotes were observed in this population.] | ||||||
| 8.3 | rs4712523(G;G) | |||||
| associated with type-2 diabetes | ||||||
| 10.0 | rs9295536(A;A) | 2x increased risk for neuroblastoma | ||||
| SNPs clustered in one region of chromosome 6p22 have been linked to increased risk for the exceedingly rare childhood cancer known as neuroblastoma. A study involving 720 patients determined that rs9295536(A;A) genotypes had increased likelihood of neuroblastoma development (odds ratio 1.93, CI: 1.55 to 2.40, p=8 x 10-8). At-risk homozygotes diagnosed with neuroblastoma had, on average, more malignant clinical presentation, more aggressive disease, and poorer long-term survival. For more information on this cluster of SNPs, see rs6939340. | ||||||
| 10.0 | rs1799836(G;G) | |||||
| Parkinson's disease The risk alleles for each SNP identified from conditional logistic regression, rs1721100 C, rs1721082 T and rs1799836 A, are consistent with previous reports. Significant interaction between this MAOB SNP and a FGF20 SNP, rs1721100 was also noticed. | ||||||
| 10.5 | rs6596189(C;T) | |||||
| Individuals homozygous or heterozygous for the rs11959298(A)-rs6596189(C) haplotype risk allele were 2.54 and 1.59 fold more likely to have autism, respectively, compared to rs11959298(G)-rs6596189(T) carriers. Note/caveat emptor: ~90% of the world's population carries what the authors from this for-profit genetic testing company call the 'risk haplotype', yet the frequency of autism is less than 1% (perhaps 1 in 150). | ||||||
| 11.7 | rs2987983(A;A) | (?)normal risk | ||||
| In one large Swedish study, men with one or two rs2987983(C) alleles were reported to be at somewhat increased (odds ratio 1.22) risk for Prostate cancer compared to men homozygous for the wild type rs2987983(T) allele, however the risk can be reduced by adding phytoestrogens to the diet. | ||||||
| 11.7 | rs8192284(C;C) | |||||
| linked to diabetes by | ||||||
| 11.7 | rs3751812(T;T) | |||||
| Within the FTO gene, many SNPs appear to be co-inherited. The SNP showing the strongest association with body weight (i.e. body mass index, BMI) is not rs3751812, although this SNP is one of the co-inherited SNPs in the FTO gene region. For more information, refer to the FTO gene or the most studied FTO SNPs, rs9930506 or rs9939609. implicated for african americans | ||||||
| 11.7 | rs8050136(A;A) | |||||
| 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. | ||||||
| 11.7 | rs3922812(T;T) | |||||
| Associated with type-2 diabetes in a Mexican-American population. | ||||||
| 11.9 | rs2229765(A;A) | |||||
| rs2229765(A;A) associated with ischemic stroke (OR = 1.641, P = 0.022) in a Chinese population | ||||||
| 13.3 | rs2298668(A;C) | |||||
| Women with the snp has been linked to significant risk of a premature birth These [http://www.eurekalert.org/pub_releases/2006-08/vcu-gvi081606.php press] [http://www.eurekalert.org/pub_releases/2006-08/modb-rdg081706.php releases] explain it more simply The risky variation is 3x more common in women of african descent. *rs2298668 Prolylcarboxypepdiase E112D (rs2298668)D allele alone and jointly with chronic hypertension were associated with a significantly increased risk of preeclampsia | ||||||
| 13.3 | rs887466(T;T) | |||||
| Source [http://www.nature.com/ng/journal/v38/n10/fig_tab/ng1885_T1.html nature] psoriasis rs887466(G) + rs4379333(C) | ||||||
| 13.3 | rs1447295(A;C) | 1.7x increased risk of [[prostate cancer]] | ||||
| rs1447295 is a SNP on chromosome 8q24, associated with increased risk for prostate cancer in several studies. In a study of over 3,600 Caucasians with prostate cancer, rs1447295 is one of five SNPs used (with family history as a sixth factor) to cumulatively predict overall risk. On their own, the rs1447295(A;A) and (A;C) risk genotypes yield an odds ratio for developing prostate cancer of 1.22 (CI: 1.06-1.40, p=5.3x10-3) and may account for 5.4% of population attributable risk. [http://www.pharmalive.com/News/index.cfm?articleid=428514&categoryid=40] The rs1447295 location could be responsible for about seven percent of prostate cancer cases in white men of north European descent. Thus, taken together with rs6983267, these two genetic changes could account for as much as one quarter of Pr... | ||||||
| 13.3 | rs4242382(A;G) | 1.7x increased risk for prostate cancer | ||||
| rs4242383 is one of 4 tightly linked SNPs in the 'locus 1' region of 8q24 chromosomal region, which has been linked in several studies to prostate cancer, initially through rs1447295. In a study of 1,563 patients of European ancestry, the odds ratio for prostate cancer associated with risk genotypes of locus 1 were reported as 1.70 (CI: 1.39-2.07). Two other regions of chromosome 8q24 were also studied. | ||||||
| 13.3 | rs131690(A;A) | normal risk | ||||
| rs131690, a SNP in the BCR gene on chromosome 22, has been associated with increased risk for bipolar disorder. The odds ratio for carriers of the minor allele (G) are reported as 1.50 (CI:1.14 - 2.03, p=0.0063) based on a study of 171 Japanese patients. | ||||||
| 13.3 | rs2713604(A;G) | |||||
| [http://genetics.plosjournals.org/perlserv/?request=get-document&doi=10.1371/journal.pgen.0020139 This paper] implicates this snp as playing a role in heart disease. Having a C at this position is considered normal. Having a T at this position increases the risk of heart disease. Approximate 27% of people carry this risky form. | ||||||
| 13.6 | rs3825776(G;G) | >1.3x risk for ALS | ||||
| rs3825776, a SNP in the region of the LIPC gene on chromosome 15, has been associated with the sporadic form of ALS (Lou Gehrig's disease) in a study of 1000+ European patients. The odds ratio for the risk allele rs3825776(G) is 1.34 (CI: 1.12 - 1.46). | ||||||
| 13.6 | rs11964281(C;T) | |||||
| 577 African American individuals with T2DM-ESRD and 596 AA controls. *rs11964281 (nominal P = 0.000291, adjusted P = 0.0289) | ||||||
| 13.6 | rs7451962(G;G) | |||||
| Source [http://www.nature.com/ng/journal/v38/n10/fig_tab/ng1885_T1.html nature] Multiple sclerosis rs9268428(C) + rs6457594(A) + rs7451962(C) | ||||||
| 13.6 | rs17576(G;G) | higher risk for lung cancer, and, COPD in smokers; normal risk for MI | ||||
| 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... | ||||||
| 13.8 | rs4712653(C;C) | 2x increased risk for neuroblastoma | ||||
| SNPs clustered in one region of chromosome 6p22 have been linked to increased risk for the exceedingly rare childhood cancer known as neuroblastoma. A study involving 720 patients determined that rs4712653(C;C) genotypes had increased likelihood of neuroblastoma development (odds ratio 1.96, CI: 1.57 to 2.43, p=7 x 10-8). At-risk homozygotes diagnosed with neuroblastoma had, on average, more malignant clinical presentation, more aggressive disease, and poorer long-term survival. For more information on this cluster of SNPs, see rs6939340. | ||||||
| 15.0 | rs6939340(G;G) | 2x increased risk for neuroblastoma | ||||
| SNPs clustered in one region of chromosome 6p22 have been linked to increased risk for the exceedingly rare childhood cancer known as neuroblastoma. A study involving 720 patients determined that rs6939340(G;G) genotypes had increased likelihood of neuroblastoma development (odds ratio 1.97, CI: 1.58 to 2.45, p=9.3 x 10-15). At-risk homozygotes diagnosed with neuroblastoma had, on average, more malignant clinical presentation, more aggressive disease, and poorer long-term survival. Presumably driven primarily by the at-risk homozygotes, the rs6939340(G) allele was considered to be a risk factor, however, there was insufficient data to conclude whether rs6939340(A;G) heterozygotes were actually at any increased risk compared to rs6939340(A;A) 'wild-type' homozygotes. Note that th... | ||||||
| 15.0 | rs4878104(T;T) | |||||
| linked to Alzheimer's disease | ||||||
| 15.0 | rs9888739(C;T) | |||||
| [http://content.nejm.org/cgi/content/full/NEJMe0800096 NEJM] a combined analysis of the 7380 independent samples generated a maximum combined P=2.02x1026 and an odds ratio of 1.65 for the association between the T allele of rs9888739 and lupus. | ||||||
| 15.0 | rs7837688(G;T) | 1.7x increased risk for prostate cancer | ||||
| rs7837688 is one of 4 tightly linked SNPs in the 'locus 1' region of 8q24 chromosomal region, which has been linked in several studies to prostate cancer, initially through rs1447295. In a study of 1,563 patients of European ancestry, the odds ratio for prostate cancer associated with risk genotypes of locus 1 were reported as 1.70 (CI: 1.39-2.07). Two other regions of chromosome 8q24 were also studied. | ||||||
| 16.7 | rs2234693(C;C) | |||||
| rs2234693 is a SNP upstream of the estrogen alpha receptor ESR1 gene, and is sometimes referred to as the -397T>C variation. rs2234693 rs9340799 and rs1256049 variations in ESR1 gene, in addition to the age of a woman, may predict the COH outcome in in vitro fertilization A study of 6,200+ Dutch individuals did not replicate previously reported associations between this SNP (rs2234693) and risk of ischemic stroke rs2234693(C;C)more frequent in African American schizophrenics (p=0.01 to 0.001). haplotype less common in schizophrenia rs2273206(T), rs2273207(G), rs2228480(G). | ||||||
| 16.7 | rs7017300(A;C) | 1.7x increased risk for prostate cancer | ||||
| rs7017300 is one of 4 tightly linked SNPs in the 'locus 1' region of 8q24 chromosomal region, which has been linked in several studies to prostate cancer, initially through rs1447295. In a study of 1,563 patients of European ancestry, the odds ratio for prostate cancer associated with risk genotypes of locus 1 were reported as 1.70 (CI: 1.39-2.07). Two other regions of chromosome 8q24 were also studied. | ||||||
| 16.7 | rs867186(A;G) | EPCR H3 haplotype; reduced or increased risk of VTE? | ||||
| rs867186 is a SNP that can indicate haplotype H3 of the EPCR gene. The protein product of the EPCR gene activates a part of the anticoagulation pathway. While the rs867186(A) allele could indicate haplotypes H1, H2 or H4, the rs867186(G) allele distinctly tags (identifies) the H3 haplotype. While most groups studying EPCR H3 agree that it leads to increased soluble EPCR, and thus should theoretically lead to reduced risk for venous thromboembolism, different groups come to different conclusions about the effect in the populations each studies. Two find no association [PMID 15304035, PMID 15116250] while one finds that the H3 haplotype (and thus rs867186(G)) actually increases the risk of venous thromboembolism (VTE), with an odds ratio of 1.80, p=0.004. | ||||||
| 16.7 | rs6133(G;T) | |||||
| [omim:ATOPY, SUSCEPTIBILITY TO] | ||||||
| 16.7 | rs5082(C;C) | heavier but lower heart disease risk? | ||||
Individuals homozygous for the -265T>C polymorphism in rs5082, i.e. individuals with the rs5082(C;C) genotype of the Apolipoprotein A-II gene (APOA2) promoter, are associated with increased obesity|Body Mass Index and food intake in the Genetics of Lipid Lowering Drugs and Diet Network (GOLDN) Study. |
||||||
| rs5082 is a SNP in the apolipoprotein APOA2 gene, and may influence obesity and heart disease risk. Individuals homozygous for the -265T>C polymorphism in rs5082, i.e. individuals with the rs5082(C;C) genotype of the Apolipoprotein A-II gene (APOA2) promoter, are associated with increased obesity|Body Mass Index and food intake in the Genetics of Lipid Lowering Drugs and Diet Network (GOLDN) Study of ~1000 individuals. The odds ratio for obesity in (C;C) individuals compared to rs5082(T) allele carriers was 1.70 (CI: 1.02-2.80, p=0.039). Total energy, total fat, and total protein intake were all significantly higher in (C;C) individuals. In a separate study, a case-control analysis of 484 Australian male coronary artery disease patients concluded that rs5082(C;C) individuals were at signif... | ||||||
| 16.7 | rs762178(A;A) | |||||
| rs762178 seems to be a potential candidate in altering risk for schizophrenia in the Chinese Han population. | ||||||
| 16.7 | rs699947(A;A) | 1.36x increased risk for thyroid cancer in men | ||||
| The A allele of rs699947 increased a risk for thyroid cancer (adjusted OR=1.36, 95% C.I=1.02~1.81, P=0.039) and regional lymph node metastasis only in men. | ||||||
| 16.7 | rs7715300(A;G) | |||||
| schizophrenia rs7715300 (p = 0.001) and rs6897690 (p = 0.032) | ||||||
| 16.9 | rs1540771(G;G) | |||||
| [http://www.plosgenetics.org/article/info%3Adoi%2F10.1371%2Fjournal.pgen.1000074 plos] the association between rs12203592 and hair color was independent of rs1540771, a SNP between the IRF4 and EXOC2 genes previously found to be associated with hair color. | ||||||
| 18.3 | rs1061646(T;T) | normal risk | ||||
| breast cancer rs1061646 was associated with risk in the initial study (p=0.0052), and in the replication studies (p=0.032). In a combined analysis, (8,556 cases, 9,605 controls) this SNP yielded an 8% increase in risk per allele. Note that this analysis was carried out in a multi-ethnic study, and rs1061646 showed more consistent association with risk in non-Caucasian populations. | ||||||
| 18.3 | rs1801280(C;C) | |||||
| rs1801280 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. The risk allele for this SNP is rs1801280(C). | ||||||
| 18.3 | rs6983267(G;G) | 1.58x risk for prostate cancer; also colon cancer | ||||
| rs6983267 is a SNP on chromosome 8q24, associated with increased risk for prostate cancer in several studies. In studies dividing the 8q24 region, this SNP falls in region 3. In a study of over 3,600 Caucasians with prostate cancer, rs6983267 is one of five SNPs used (with family history as a sixth factor) to cumulatively predict overall risk. On their own, the rs6983267(G;G) and (G;T) risk genotypes yield an odds ratio for developing prostate cancer of 1.37 (CI: 1.18-1.59, p=3.4-10e-5) and may account for 22.2% of population attributable risk. The increased risk of developing prostate cancer associated with rs6983267 now appears to be independent of the risk associated with it's close neighbor, rs1447295. The odds ratio for heterozygotes is estimated to be 1.26 (CI: 1.13 - 1.41), and for ... | ||||||
| 18.3 | rs998075(C;C) | |||||
| related IGF2R Ex16+88G>A rs998075 alters methylation affecting osteosarcoma | ||||||
| 18.3 | rs1208(G;G) | |||||
| rs1208 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. The risk allele for this SNP is rs1208(G). | ||||||
| 20.0 | rs9217(G;G) | |||||
| Variations in this snp have been linked to nicotine dependence [http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&dopt=AbstractPlus&list_uids=16874522&query_hl=3&itool=pubmed_docsum] | ||||||
| 20.0 | rs1343151(T;T) | 0.8x lower risk for spondylitis | ||||
| rs1343151 is one of several SNPs in the IL23R gene that has been shown in a large (over 1,000 Caucasian patients) study to be associated with ankylosing spondylitis. The odds ratio is 0.8 (p=1.0x10e-5).[PMID 17952073, PMID 18037607] | ||||||
| 20.0 | rs1990760(C;T) | |||||
| [http://jcem.endojournals.org/cgi/content/abstract/92/8/3338 Abstract] associated with type-1 diabetes, organ-specific autoimmune diseases, including Graves' disease. (odds ratio 1.47 (CI: 1.231.76, p = 1.9 x 105) This polymorphism may also contribute to several other autoimmune disorders. A study of 261 Chinese patients with Graves' disease failed to find any association with rs1990760. | ||||||
| 20.0 | rs6469792(C;C) | |||||
| [http://www.medpagetoday.com/Endocrinology/Osteoporosis/tb/9271 news] rs6469792 and rs6469804 association with bone mineral density. | ||||||
| 20.0 | rs17602729(A;G) | AMPD1 heterozygote | ||||
| 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 defi... | ||||||
| 20.3 | rs7757037(A;A) | 0.63x decreased risk for bipolar disorder | ||||
| rs7757037, a SNP in the FKBP5 gene, is associated with increased risk for bipolar disorder in a study of 500+ Caucasian patients. The most common allele, rs7757037(G), was associated with highest risk. Giving that allele a relative odds ratio of 1.0, the odds for the (A;G) and (A;A) genotypes were 0.68x (CI:0.53-0.87, p=0.007) and 0.63x (CI: 0.45-0.89, p=0.007). | ||||||
| 20.3 | rs6457617(T;T) | 5.2x risk | ||||
| rs6457617 has been reported in a large study to be associated with rheumatoid arthritis. This SNP is reported to be the most statistically significant of many SNPs similarly located in the MHC region. The risk allele (oriented to the dbSNP entry) is (T); the odds ratio associated with heterozygotes is 2.36 (CI 1.97-2.84), and for homozygotes, 5.21 (CI 4.31-6.30). | ||||||
| 20.7 | rs2280089(A;G) | |||||
| rs2280089, a SNP in the ADAM33 gene, has been linked to a predisposition to asthma and bronchial hyperresponsiveness. [PMID 12110844, PMID 14564349] | ||||||
| 20.7 | rs3024496(T;T) | |||||
| Dust mite exposure modifies the effect of functional IL10 polymorphisms on allergy and asthma exacerbations. Dust mite exposure significantly modified the relation between 3 SNPs in IL10 (rs1800896, rs3024492, and rs3024496). Homozygosity for the minor allele of each of the 3 SNPs was associated with increased risk of occurrence ( approximately 3-fold to 39-fold increase) | ||||||
| 21.7 | rs5051(C;C) | normal risk | ||||
| rs5051 is a SNP in the promoter of the angiotensin AGT gene, and presumably due to it's tight linkage with rs699, the rs5051(T) allele - as oriented to the dbSNP entry, not as published - has been associated with increased risk for hypertension and complications thereof. rs699(T) is associated with higher plasma angiotensinogen levels, and therefore the increased risk of essential hypertension. The frequency of the rs699(T) allele is also generally higher in African populations compared to Caucasian populations, correlating to the higher incidence of hypertension in African population. rs5051 is also known as 'A-6G'. For more details, see rs699. rs5051(T;T) homozygotes have been reported to be at increased risk for Crohn's disease, as based on one cohort of ~350 Australian patients. The od... | ||||||
| 21.7 | rs2303067(A;A) | 1.8x risk | ||||
| rs2303067, a SNP in the SPINK5 gene, has been significantly associated with susceptibility to atopic dermatitis. The risk allele for rs2303067 is (A). rs2303067 has also been associated with predisposition to asthma, . From this study: 'A significant association between rs2303067 and the development of asthma was observed (OR 1.77; 95%CI: 1.02-3.06, P=0.041 for rs2303067(A;A) homozygotes). Atopic carriers of rs2303067 showed an increased risk for asthma and asthma symptoms (OR 2.06; 95%CI: 1.01-4.20, P=0.047). When children with a combination of asthma and atopic dermatitis were compared with normal controls, the rs2303067(A) genotype was more prevalent in the disease group (OR 4.56; 95%CI: 1.370-15.12, P=0.007).' | ||||||
| 21.7 | rs1800896(A;A) | |||||
| Dust mite exposure modifies the effect of functional IL10 polymorphisms on allergy and asthma exacerbations. Dust mite exposure significantly modified the relation between 3 SNPs in IL10 (rs1800896, rs3024492, and rs3024496). Homozygosity for the minor allele of each of the 3 SNPs was associated with increased risk of occurrence ( approximately 3-fold to 39-fold increase) | ||||||
| 21.7 | rs17822931(C;T) | wet earwax | ||||
| This SNP determines wet vs dry earwax as well as sweat production it is commonly (T;T) for asians and (C;C) for europeans and africans. | ||||||
| 21.7 | rs2236225(T;T) | |||||
| [omim:NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO] | ||||||
| 21.7 | rs5945572(G;G) | |||||
| Associated with prostate cancer | ||||||
| 21.7 | rs17137124(T;T) | |||||
| variations in rs17137124 and rs10227893 may impair speech | ||||||
| 21.7 | rs534654(C;T) | |||||
| Along with rs6442925 and rs1534891, this SNP, rs534654, is part of a 3-SNP (multi-locus) interaction that is associated with bipolar disorder. | ||||||
| 21.7 | rs10116277(T;T) | |||||
| discussed in this [http://suicyte.wordpress.com/2007/05/26/soul-searching-i/ blog post] A region of chromosome 9p21 has revealed numerous SNPs correlated with risk of myocardial infarction in a study of 2,000+ patients. This SNP, rs10116277, is highly correlated (r2=0.9) with rs2383207, as well as rs1333040 (r2=0.67). Ultimately, though, the SNP in this study (and region) with the highest disease correlation is rs10757278. | ||||||
| 21.7 | rs3741208(T;T) | |||||
| associated with type-1 diabetes | ||||||
| 21.7 | rs11574637(C;T) | |||||
| Associated with systemic lupus erythematosus (SLE) | ||||||
| 22.0 | rs140504(A;G) | 1.4x increased risk for bipolar disorder | ||||
| rs140504, a SNP in the BCR gene on chromosome 22, has been associated with increased risk for bipolar disorder. The odds ratio for carriers of the minor allele (G) are reported as 1.45 (CI:1.11 - 1.84, p=0.0054) based on a study of 171 Japanese patients. | ||||||
| 22.4 | rs2518136(C;C) | |||||
| Associated with type-2 diabetes in a study of Danish (but apparently not Swedish or French) Caucasians | ||||||
| 23.3 | rs4825476(A;A) | normal | ||||
| This SNP, located in an intron of the GRIA3 gene (also known as AMPA3), has been linked in one study to increased thoughts of suicide in patients taking the anti-depressant drug citalopram. The increased risk is calculated to be 1.9x. If the individual is also carrying two rs2518224(C) alleles, i.e. is a rs2518224(C;C) homozygote, the odds ratio for having suicidal thoughts is increased to ~15x (CI: 3.7 - 60.6). | ||||||
| 23.3 | rs2040639(G;G) | |||||
| 18067C>T possibly related to non-Hodgkin lymphoma rs2040639-AG, contribute to oral cancer risk. pseudo-haplotype with AG-CC genotypes in *2.45x risk rs2040639-rs861539 *5.03x risk rs2040639-rs861539-rs2075685 *10.10x risk rs2040639-rs861539-rs2075685-rs1799782 | ||||||
| 23.3 | rs7903146(C;C) | normal form | ||||
| This SNP in TCF7L2 influences the risk of Type-2 diabetes (T2D). rs7903146(C;T) rs7903146(T;T) strongly predicted future type-2 diabetes. Considered in context with rs7903146 rs12255372 rs10885406. Note: this is one of two SNPs within the TCF7L2 gene that have been reported to be associated with type-2 diabetes, the other being rs4506565. They have approximately equal power to estimate risk for type-2 diabetes, and the results from one correlate 92% of the time with the other. [http://medicine.plosjournals.org/perlserv/request=get-documentamp?request=get-document&doi=10.1371/journal.pmed.0030374 Full text of the paper] is available from from Plos Medicine. Or from NCBI as . TCF7L2 polymorphisms and progression to diabetes in the Diabetes Prevention Program. reconfirmed in a diverse pop... | ||||||
| 23.3 | rs2383207(G;G) | increased risk for heart disease | ||||
| discussed in this [http://suicyte.wordpress.com/2007/05/26/soul-searching-i/ blog post] as possibly playing a role in coronary heart disease This SNP was also associated with increased risk for coronary artery disease in a Korean population. The association remained significant after adjusting for significant clinical covariates (P=0.001 to 0.024). We identified one risk haplotype (GGGG; P=0.017) and one protective haplotype (AAAA; P=0.007) for development of CAD. Further analysis suggested that the SNPs probably confer susceptibility to CAD in a dominance model (covariates-adjusted P=0.001 to 0.024; OR=2.37 to 1.54). Also found to be significant in a study of 416 Italian myocardial infarction patients. | ||||||
| 23.3 | rs2228480(A;G) | |||||
| haplotype less common in schizophrenia rs2273206(T), rs2273207(G), rs2228480(G). | ||||||
| 23.3 | rs509749(A;A) | common; slight increase in SLE risk | ||||
| rs509749 is a SNP in exon 8 of the LY9 gene; this SNP is also known as Met602Val. The (A) allele encodes the Met; the (G) allele encodes the Val. The rarer (G) allele is undertransmitted in a family-based association study of systemic lupus erythematosus, leading to the conclusion that the (A) allele increases risk for SLE by increasing cytokine production and thereby enhancing the immune response. | ||||||
| 25.0 | rs6469804(A;A) | |||||
| [http://www.medpagetoday.com/Endocrinology/Osteoporosis/tb/9271 news] rs6469792 and rs6469804 association with bone mineral density. | ||||||
| 25.0 | rs6675281(C;T) | |||||
| linked to schizophrenia | ||||||
| 25.0 | rs2239518(C;T) | |||||
| schizophrenia the SNPs (rs1049623, rs2267641 and rs2239518) haplotype remaining significant even after adjustment for multiple testing (adjusted P=0.0136). | ||||||
| 25.0 | rs4680(A;A) | multiple associations, see details | ||||
| rs4680 is a well studied SNP in the catechol-O-methyltransferase COMT gene. rs4680 is also known as the Val158Met polymorphism; note that rs4680(G) encodes the Val, considered to be the high enzymatic activity form, and rs4680(A) encodes the Met (lower enzymatic activity). Part of a three-marker haplotype rs737865-rs4680-rs165599 rs4680, a functional Val/Met polymorphism, showed modest association with Irish familial schizophrenia. Haplotype A-G-A for SNPs rs737865-rs4680-rs165599 was preferentially transmitted to the affected subjects. A study of 400 individuals reported that an increase in plasma total homocysteine (tHcy) of 10.4% (CI: 0.01-0.21, p=0.03) for associated with rs4680(A;A) homozygotes compared with rs4680(G;G) subjects. The (A;A) genotype was also more common, but statistica... | ||||||
| 25.0 | rs688(T;T) | 1.5x higher risk for males of Alzheimer's | ||||
| RNA made containing the rs688(T) SNP, a variant near exon 12 of the low-density lipoprotein receptor (LDLR) that is a receptor for ApoE proteins, is spliced at lower efficiency in males. Presumably due to this, the rs688(T;T) genotype was associated with increased risk for Alzheimer's disease odds in males (odds ratio 1.49, CI: 1.13-1.97, uncorrected p=0.005), but not in females. | ||||||
| 25.0 | rs2016520(A;A) | |||||
| Associated with baseline cholesterol levels in a study of 9,000+ individuals in Washington County, Maryland. | ||||||
| 25.0 | rs279858(A;A) | |||||
| This SNP in the GABRA2 gene has been linked to Alcoholism. The effect of this SNP, a synonymous change at amino acid residue 132, is unknown, but it does not change the GABRA2 protein sequence. Carriers of at least one rs279858(G) allele respond slower to the effects of alcohol and are thereby apparently more prone to alcoholism than carriers of two rs279858(A) alleles. Finasteride, an FDA approved drug for the treatment of benign prostatic hypertrophy and a modulator of GABRA2, was shown to have more of a blocking effect on rs279858(A) homozygotes. Note that nearby SNPs have been grouped into a haplotype that shows statistically stronger association with alcohol dependence, namely the haplotype consisting of the rs279871(A) + rs279845(T) + rs279836(A) alleles . | ||||||
| 25.0 | rs931127(A;A) | 2.15x more likely positive lymph node | ||||
[http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=16563182 PMID: 16563182] In women diagnosed with breast cancer, this genotype less favorable. It is more associated with lymph node metastasis than (G;G). The study found that 33.3% of those with GG genotype had positive lymph nodes as compared with 52.7% among those with GA or AA genotype (P = 0.0139). An individual with the GA or AA genotype was 2.15 times more likely to have positive lymph nodes than was an individual with GG genotype. |
||||||
| [http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=ShowDetailView&TermToSearch=16563182&ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum PMID: 16563182 ] This SNP in can have implications for prognosis in breast cancer. It is located 313 base pairs upstream of the 5'-untranslated region of SIPA1 and is considered to be within the promoter region of the gene. SIPA1 germline polymorphisms are associated with aggressive disease behavior(lymph node metastasis) in the cohort examined | ||||||
| 25.9 | rs20417(C;G) | normal risk of diabetes | ||||
| In a group of Pima Indians, individuals with the variant PTGS2 rs20417 CC genotype had a 30% higher Type 2 diabetes prevalence compared with subjects with the GG genotype | ||||||
| 25.9 | rs7528684(A;A) | normal | ||||
| rs7528684 rs3792876 and rs2268277 failed to showed a statistically significant association with rheumatoid arthritis rs7528684 has been reported to be associated with rheumatoid arthritis in a Caucasian population, following reports of a similar association in a Japanese population. The risk allele (oriented to the dbSNP entry) is (G); the odds ratio associated with heterozygotes is 0.95 (CI 0.83-1.08), and for homozygotes, 2.30 (CI 1.64-3.23). In a study of 645 Caucasians from Southern Spain with multiple sclerosis, the rs7528684(G) allele (in dbSNP orientation) was found to be somewhat protective (per allele odds ratio 0.81, CI: 0.70-0.94, p=0.007). In another report , a summary indicates the following regarding disease and odds ratio (OR)for rs7528684: * for rheumatoid arthritis: OR =... | ||||||
| 26.3 | rs11571316(C;C) | |||||
| associated with type-1 diabetes | ||||||
| 26.7 | rs761100(G;G) | higher risk for dyslexia | ||||
| The more common allele of rs761100 has been linked to increased risk for developmental dyslexia in a study of ~300 British families. While odds ratios were not reported, the significance was reported as p=0.02. | ||||||
| 26.7 | rs4939827(T;T) | 1x normal risk for colorectal cancer | ||||
| rs4939827 is one of 3 SNPs in the SMAD7 gene associated with risk for colorectal cancer, based on a large study (7,400+ cases) conducted in the UK. The odds ratios show a decreased risk for the minor rs4939827(C) allele; the OR for (C;C) homozygotes is 0.73 (CI: 0.66-0.8), and for (C;T) heterozygotes 0.86 (CI: 0.79-0.92), overall p=1x10-12. | ||||||
| 26.7 | rs1554973(C;T) | |||||
| In the study the researchers analysed DNA from placental tissue samples and cord blood from 111 women and their babies and found that maternal rs1079932) and one foetal rs1554973 demonstrated highly significant association with chorionic plate inflammation. [http://www.thaindian.com/newsportal/health/genetic-mutation-behind-increased-preterm-birth-risk_10015965.html news] | ||||||
| 26.7 | rs5065(A;G) | normal risk | ||||
| rs5065, also known as T2238C, is a SNP in the atrial natriuretic precursor A NPPA gene. A large study has been conducted in which 42,418 hypertensive participants 55 or older were followed for several years while on one of four medications: a diuretic, a calcium antagonist, an angiotensin-converting enzyme inhibitor, or an alpha-blocker. The primary endpoint was either fatal heart disease or a heart attack. The blood pressure after six months of rs5065(G;G) patients (note: genotype is in dbSNP orientation, not as published) was lower if the patients were treated with diuretics compared to other medications, with smaller variation seen for (A;A) genotypes. The authors noted that none of the findings retained statistical significance after correction for multiple comparisons, but since the t... | ||||||
| 26.7 | rs6601764(T;T) | normal | ||||
| rs6601764 has been reported in a large study to be associated with Crohn's disease. The risk allele (oriented to the dbSNP entry) is (C); the odds ratio associated with heterozygotes is 1.16 (CI 1.01-1.33), and for homozygotes, 1.52 (CI 1.28-1.80). | ||||||
| 26.7 | rs5443(C;C) | average | ||||
| 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 incr... | ||||||
| 26.7 | rs4633(T;T) | higher risk for endometrial cancer | ||||
| rs4633 is a variant at codon 62 of the COMT gene, however, it does not change the amino acid sequence of the COMT protein. In a study of 150 (Caucasian) cases of endometrial cancer, a significant increase in rs4633(T;T) genotype was observed in patients compared to controls (OR = 2.39, CI: 1.31-4.37, p = 0.004). Furthemore, the frequency of the C-G haplotype of rs4633-rs4680 was significantly higher in controls (p < 0.0001) than in patients. This correlated with lower expression levels of the COMT protein in carriers of these alleles. [http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1180576 pubmed 1180576] Schizophrenia Susceptibility Genetic basis for individual variations in pain perception and the development of a chronic pain condition | ||||||
| 26.7 | rs7574865(G;T) | 1.3x risk for RA; 1.5x for SLE | ||||
| rs7574865, a SNP in the third intron of the STAT4 gene, has been reported in a large study of Swedes to be associated with both rheumatoid arthritis and lupus (SLE). The risk allele (oriented to the dbSNP entry) is (T); the odds ratio associated the presence of a risk allele was 1.3 for rheumatoid arthritis and 1.55 for lupus (SLE). The paper states that, 'Homozygosity of the risk allele, as compared with absence of the allele, was associated with a more than doubled risk for lupus and a 60% increased risk for rheumatoid arthritis.' A study of 124 Caucasian patients with primary Sjogren's syndrome, a related autoimmune disease to RA and SLE, also found that the rs7574865(T) allele to be associated with higher risk for this condition (p=0.01). | ||||||
| 26.7 | rs3761847(G;G) | >1.3x risk | ||||
| rs3761847, a SNP located between two genes associated with chronic inflammation (TRAF1 and C5), is associated with increased risk of antiCCP-positive rheumatoid arthritis. The risk allele is (G); the odds ratio reported is 1.32 (95% confidence interval, 1.23 to 1.42; P=4x1014) . | ||||||
| 26.7 | rs4355801(A;A) | |||||
| [http://www.medpagetoday.com/Endocrinology/Osteoporosis/tb/9271 news] rs4355801, was associated with a 20% increased risk of osteoporosis (significant at P=0.038). At least one copy of the risk allele of rs4355801 was found in 79% of study participants. Participants carrying at least one copy of each risk allele -- 22% of the study population -- had a 50% increased risk of osteoporosis, which was significant at P=0.0026, and a 29% increased risk of osteoporotic fractures (significant at P=0.014). rs3736228 associated with decreased bone mineral density (p=6.3x10(-12) for lumbar spine and p=1.9x10(-4) for femoral neck) and an increased risk of both osteoporotic fractures (odds ratio [OR] 1.3, 95% CI 1.09-1.52, p=0.002) and osteoporosis (OR 1.3, 1.08-1.63, p=0.008). rs4355801 associated with... | ||||||
| 27.1 | rs2710102(T;T) | |||||
| rs2710102, a common SNP in the CNTNAP2 gene, was found to be significantly associated (p<0.028) with a delayed onset of speech, as measured by the age at which a child speaks their first words, in children with autism. This effect is primarily seen in males, perhaps correlated with the 4-5x overrepresentation of males with autism compared with females. The confirmatory Stage 2 study was performed on 304 independent parent-child trios. However, the risk allele and the degree to which speech is delayed per genotype is unclear as published and awaits clarification by the authors. | ||||||
| 28.3 | rs1800797(G;G) | |||||
| rs1800797, rs1800796 and rs1800795 have been shown to affect both the transcription and secretion of IL-6, to symptomatic distal interphalangeal osteoarthritis based on 535 women. the G alleles of two promoter single-nucleotide polymorphisms (SNP) G-597A and G-174C were more common among the subjects with symptomatic DIP OA than among those with no disease (p-values corrected for multiple testing 0.020 and 0.024). Also, the carriage of at least one G allele in these positions increased the risk of disease (p=0.006 and, p=0.008, respectively). Carrying a haplotype with the G allele in all three promoter SNPs increased the risk of symptomatic DIP OA more than four-fold (OR 4.45, p=0.001). Carriage of the G-G diplotype indicated an increased risk of both symmetrical DIP OA (OR 1.52 95% CI 1.0... | ||||||
| 28.3 | rs1893217(C;T) | |||||
| linked to Crohn's disease and type-1 diabetes | ||||||
| 28.3 | rs1137101(G;G) | |||||
| [omim:LEPTIN RECEPTOR POLYMORPHISM] | ||||||
| 28.3 | rs2143340(C;T) | increased risk | ||||
| Rs2143340, a SNP in the TTRAP gene, is in a region that crops up in several independent studies as likely to associated with dyslexia. The risk allele in the US/UK Caucasian populations studied is (C), and it is indicative of a risk haplotype found in ~18% of the general population but up to ~28% of severely dyslexic individuals. It is not thought that rs2143340 is a functional SNP; instead, it marks the haplotype known as rs4504469-rs2038137-rs2143340 '1-1-2' since the other two SNPs are the common forms whereas the significant form for rs2143340 is the rare form. The functional effect of this haplotype appears to be on the KIAA0319 gene, in that KIAA0319 gene activity associated with the 1-1-2 risk haplotype is 40% lower than for other haplotypes, and other genes aren't noticeably affec... | ||||||
| 28.3 | rs1800321(A;A) | |||||
| [omim:ORNITHINE TRANSCARBAMYLASE POLYMORPHISM] | ||||||
| 28.3 | rs13036957(A;G) | |||||
| This SNP was associated with amyotrophic lateral sclerosis (ALS) based on a study of 1,152 patients. | ||||||
| 28.3 | rs7076156(A;G) | |||||
| [omim:URIC ACID NEPHROLITHIASIS, SUSCEPTIBILITY TO] | ||||||
| 28.3 | rs1800630(A;C) | 1.8x increased lupus risk | ||||
| rs1800630 is a SNP upstream of the tumor necrosis alpha (TNF) gene; this SNP is also typically called the -863 variant. In a study of 154 Thai patients with systemic lupus erythematosus (SLE), rs1800630(A) allele frequency was significantly increased, with an odds ratio of 1.85 (CI: 1.21-2.83, p(corr) = 0.009). This allele was also found to be significantly increased in the SLE group with Raynaud's phenomenon compared to SLE without Raynaud's phenomenon ( odds ratio of 2.23, CI: 1.21-4.10, p(corr) = 0.048). | ||||||
| 28.3 | rs6280(C;T) | normal | ||||
| rs6280 is a SNP in the dopamine receptor D3 DRD3 gene. The rs6280(C) allele encodes a glycine, and the (T) allele encodes a serine (in dbSNP orientation). In a study of 88 patients being treated for schizophrenia with olanzapine, those who were rs6280(C;C) homozygotes had greater positive symptom remission (endpoint rating of minimal or none on all PANSS clinical response positive items, 39.1%), as compared with (C;T) or (T;T) genotypes (13.8%; p = 0.033). | ||||||
| 28.3 | rs5215(T;T) | |||||
| The association between type-1 diabetes and rs5215 is mentioned as being replicated in ; there is also a 90% correlation between rs5215 and rs5219. | ||||||
| 28.3 | rs709932(A;G) | |||||
| [omim:PI M4] | ||||||
| 28.3 | rs1042838(G;T) | 1.26x risk for ovarian cancer | ||||
| Two SNPs in haplotype block 4 of the PGR gene were associated with an increased risk of ovarian cancer among homozygous carriers as compared with noncarriers: rs1042838 (PROGINS allele; odds ratio [OR] = 3.23, 95% confidence interval [CI] = 1.19 to 8.75, P = .022) and rs608995 (minor allele; OR = 3.10, 95% CI = 1.63 to 5.89, P<.001). For rs1042838, the risk allele in orientation to the corresponding dbSNP entry is (T). This SNP, which is located in the progesterone receptor gene PGR, has also been reported to be associated with migraine-associated vertigo. SNPs in genes involved in female hormonal pathways have been a subject of particular interest in the study of migraines because females appear to be more prone to migraines than males. | ||||||
| 28.3 | rs2241880(C;C) | 2x risk | ||||
| rs2241880, a SNP in the ATG16L1 gene encoding a threonine to alanine substitution ('T300A') in a protein known to be involved in the function of the epithelial cells lining the intestine, has been associated with Crohn's disease in several recent studies. [PMID 17200669, PMID 17435756] In another recent (2007) report, rs2241880 is confirmed to be associated with both Crohn's disease and ileal disease, but additionally, the authors calculate risk for individuals who are homozygotes for this SNP plus 2 others (in the IBD5 and NOD2 genes). Individuals homozygous for the risk alleles for all 3 of these SNPs are estimated to be at 20 fold higher risk (CI ~9-49) for Crohn's disease. From the largest most recent survey, the Crohn's disease-associated SNPs for IBD5 and NOD2 are, respectively, rs6... | ||||||
| 28.3 | rs3750344(A;G) | |||||
| Is Associated with Nicotine Dependence | ||||||
| 28.8 | rs11052552(G;G) | 1.4x risk | ||||
| rs11052552 has been reported in a large study to be associated with type-1 diabetes. The risk allele (oriented to the dbSNP entry) is (G); the odds ratio associated with heterozygotes is 1.49 (CI 1.28-1.73), and for homozygotes, 1.43 (CI 1.21-1.69). | ||||||
| 30.0 | rs9900972(A;G) | |||||
| rs6996321 significantly related to spine bone mineral density (p=0.002) and rs10914367 associated with hip BMD (p=0.028). Non-vertebral fracture risk was significantly increased in carriers of 'A' allele of rs9900972 (OR=2.06, p=0.0187) | ||||||
| 30.0 | rs9786043(T;T) | |||||
[haplogroup:K-R] |
||||||
| [haplogroup:?] | ||||||
| 30.0 | rs12255372(G;T) | ? | ||||
This is the genotype of User:Watson |
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| This SNP is in the TCF7L2 gene, and has been linked to type-2 diabetes, breast cancer and aggressive prostate cancer. is the paper which links it to Breast cancer. It suggests the T allele as increasing risk. reports the association of rs12255372 and rs7903146 with Type-2 diabetes in a Finnish sample. rs12255372 Common variants (rs12255372 and rs7903146) in TCF7L2 seem to be associated with an increased risk of diabetes among persons with impaired glucose tolerance Considered for type-2 diabetes with rs7903146 rs12255372 rs10885406. Associated in a study of ~1000 Hispanic-Americans with reduced insulin secretion as measured by acute insulin response and adjusted for the degree of insulin sensitivity (p = 0.036). In a study of 1,457 prostate cancer cases and 1,351 controls, while there w... | ||||||
| 30.0 | rs10489629(G;G) | 0.83x lower risk for spondylitis | ||||
| rs10489629 is one of several SNPs in the IL23R gene that has been shown in a large (over 1,000 Caucasian patients) study to be associated with ankylosing spondylitis. The odds ratio is 0.83 (p=0.00014).[PMID 17952073, PMID 18037607] | ||||||
| 30.0 | rs27072(C;T) | normal | ||||
| rs27072, a SNP in the dopamine transporter SLC6A3 gene, has been associated with more severe symptoms upon alcohol withdrawal, such as seizures, in a study of 250 Caucasian alcohol-dependent patients. Two haplotypes appear to be tagged by this SNP and a neighbor, rs27048. | ||||||
| 30.0 | rs1130866(T;T) | if sclerotic, reduced risk of lung disease | ||||
| rs1130866 is a SNP altering an amino acid at position 131 of the pulmonary-associated protein B surfactant SFTPB gene. On it's own, it does not affect the odds of acquiring systemic sclerosis. However, in a study of 127 Japanese patients who already had systemic sclerosis, rs1130866(T;T) homozygotes were found to be at reduced risk for interstitial lung disease. | ||||||
| 30.0 | rs17315821(T;T) | |||||
| [haplogroup:?] | ||||||
| 30.0 | rs27048(C;C) | 2x risk of severe alcohol withdrawal | ||||
| rs27048, a SNP in the dopamine transporter SLC6A3 gene, has been associated with more severe symptoms upon alcohol withdrawal, such as seizures, in a study of 250 Caucasian alcohol-dependent patients. Two haplotypes appear to be tagged by this SNP and a neighbor, rs27072. | ||||||
| 30.0 | rs9786119(G;G) | |||||
[haplogroup:P] |
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| [haplogroup:?] | ||||||
| 30.0 | rs9786896(G;G) | |||||
[haplogroup:P] |
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| [haplogroup:?] | ||||||
| 30.0 | rs363050(G;G) | normal IQ | ||||
| This is one of four SNPs in the first intron of the SNAP25 gene that have been correlated with increased intelligence based on studies of ~300 Caucasian subjects. The (A;A) genotype averages 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). | ||||||
| 30.0 | rs3748079(A;G) | normal risk | ||||
| rs3748079 is a SNP in the promoter region of the ITPR3 gene; it is also known as -1990C>T. rs3748079 has been linked to increased risk for systemic lupus erythematosus (SLE) in two independent Japanese case-control samples (p=0.0000000178 with odds ratio of 1.88, CI:1.51-2.35). Individuals with risk genotypes of both rs3748079 and rs3095870, in the ITPR3 and NKX2.5 genes, respectively, have even high risk for SLE (odds ratio 5.77). This particular SNP also revealed associations with rheumatoid arthritis (RA) (p=0.0084 with odds ratio of 1.23, CI:1.05-1.43) and with Graves' disease (GD) (p=0.00036 with odds ratio of 1.57, CI:1.22-2.02). Note that the orientation of this SNP as published is reversed compared to the dbSNP entry. | ||||||
| 30.0 | rs895530(G;G) | |||||
[haplogroup:P] |
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| [haplogroup:?] | ||||||
| 30.0 | rs363039(C;C) | higher IQ | ||||
| This is one of four SNPs in the first intron of the SNAP25 gene that have been correlated with increased intelligence based on studies of ~300 Caucasian subjects. In orientation to the dbSNP entry for this SNP, rather than as published, the (C;C) genotype averages ~2 PIQ points higher than the (C;T) genotype, which averages 2 PIQ points higher than the (T;T) genotype. 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). | ||||||
| 31.7 | rs251124(C;T) | |||||
| http://stroke.ahajournals.org/cgi/reprint/37/9/2372 rs251124 (OR1.43, 95% CI1.09 to 1.88, P0.008) and rs173686 (OR1.34; 95% CI1.09 to 1.65, P0.004) linked to increased risk for disruption of the extracellular matrix (ECM) of the arterial wall and is a likely factor in the pathogenesis of intracranial aneurysms (IAs). | ||||||
| 31.7 | rs838552(C;T) | |||||
| linked to late onset Parkinson's disease | ||||||
| 31.7 | rs1333040(T;T) | |||||
| discussed in this [http://suicyte.wordpress.com/2007/05/26/soul-searching-i/ blog post] | ||||||
| 31.7 | rs2227564(C;T) | |||||
| rs2227564 A functional polymorphism within plasminogen activator urokinase (PLAU) is associated with Alzheimer's disease . *rs2227564 distribution of four tagSNPs (rs2227562 in intron 5, rs2227564 in exon 6, rs2227571 in intron 9, and rs4065 in 3'UTR) in the PLAU gene in a large case-control study of Alzheimer's disease [omim:ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO] | ||||||
| 31.7 | rs663048(G;T) | |||||
| rs663048 associated with lung cancer The homozygotes for the variant allele had more than a 3-fold risk compared with the wild-type homozygotes [combined odds ratio (OR), 3.32; 95% confidence interval (95% CI), 1.81-7.21]. Heterozygotes also had a significantly elevated risk of lung cancer from the combined replication studies with an OR of 1.15 (95% CI, 1.04-1.59). The effect remained significant after adjusting for age, gender, and pack-years of tobacco smoke.007;67(17):8406-11]. | ||||||
| 31.7 | rs2076530(A;A) | 2x risk for sarcoidosis | ||||
| rs2076530(A) was estimated to double the risk of developing sarcoidosis, at least as based on a study of Caucasians. Although by itself it was not associated with increased risk for sarcoidosis in a population of African descent, this allele was part of a disease-associated haplotype. The rs2076530 SNP has also been investigated for associations with multiple sclerosis, Type-1 diabetes, SLE, and rheumatoid arthritis, but any association seen has apparently been due to carryover effects from nearby major histocompatibility haplotypes. [PMID 16690410, PMID 16321988] | ||||||
| 31.7 | rs486907(G;G) | |||||
| [omim:PROSTATE CANCER, SUSCEPTIBILITY TO] | ||||||
| 31.7 | rs135551(C;T) | |||||
| 667 cases and 862 controls (OR=0.87, P=0.046, 95% CI=0.72-0.99 for rs135551; OR=0.80, P=0.034, 95% myocardial infarction in a European population. | ||||||
| 31.7 | rs251177(C;T) | somewhat higher risk for prostate cancer | ||||
| rs251177 is one of seven SNPs found in a combined study of over 1,000 patients to be associated with increased risk for prostate cancer. The risk allele for this SNP is (C); and while the odds ratio was not specifically reported, the probability of false significance (not permuted though) was given as p=0.000188, using an additive model of risk. | ||||||
| 31.7 | rs213950(G;G) | normal | ||||
| rs213950, a SNP in the cystic fibrosis CFTR gene, has been reported in a large study to be associated with type-1 diabetes. In an expanded follow-up study of >6,000 controls and 6,000 patients, the heterozygote odds ratio for this SNP was recalculated to be 1.09 (CI 1.041.15). [omim:CFTR POLYMORPHISM] | ||||||
| 32.2 | rs788016(A;A) | |||||
| G-C-T-C haplotype of rs2340690-rs788016-rs2305560-rs2565163 has odds ratio of 1.91 (CI: 1.26-2.89, p=0.002) for coronary heart disease compared to G-T-T-C, based on a study of 1,000 Han Chinese patients and matched controls. * Note: Haplotype allele assignments may not be in dbSNP orientation. | ||||||
| 33.3 | rs2281845(G;G) | |||||
| [omim:THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO] | ||||||
| 33.3 | rs11650354(C;T) | possible risk for allergic asthma | ||||
| 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. | ||||||
| 33.3 | rs10504543(G;G) | |||||
| Left ventricle systolic dimension, rs10504543 (KCNB2, p = 5.18*10(-6)) | ||||||
| 33.3 | rs885834(A;A) | |||||
| associated with specific patterns of brain activity. rs3087454 rs1355920 rs7520974 rs885834 | ||||||
| 33.3 | rs4713902(C;T) | 0.69x decreased risk for bipolar disorder | ||||
| rs4713902, a SNP in the FKBP5 gene, is associated with increased risk for bipolar disorder in a study of 500+ Caucasian patients. The most common allele, rs4713902(T), was associated with highest risk. Giving that allele a relative odds ratio of 1.0, the odds for the (C;T) and (C;C) genotypes were 0.69x (CI:0.55-0.88, p=0.001) and 0.47 (CI: 0.30-0.74, p=0.001). | ||||||
| 33.3 | rs2881766(G;T) | increased risk for pregnancy-induced hypertension | ||||
| rs2881766 is a SNP in the promoter region of the estrogen receptor alpha ESR1 gene. Carriers of rs2881766(T) alleles are at somewhat (slightly) higher risk for pregnancy-induced hypertension. | ||||||
| 33.3 | rs2660899(G;T) | |||||
| Despite earlier reports of an association, no risk for myocardial infarction was seen for rs2660899 variants in a study of 1,211 German patients. | ||||||
| 33.9 | rs1801133(C;T) | multiple, incl 1.17x for gastric cancer | ||||
| rs1801133 is a SNP that is relatively common and has been studied for (relatively) a long time. Also known as C677CT, Ala222Val, and A222V, it encodes a variant in the MTHFR gene, which encodes an enzyme involved in folate metabolism. Homozygous rs1801133(T;T) individuals have ~30% of the expected MTHFR enzyme activity, and rs1801133(C;T) heterozygotes have ~65% activity, compared to the most common genotype, rs1801133(C;C). This reduced activity (i.e. this SNP) has been linked at least once to each of the following disorders (though not necessarily reproducibly): *coronary artery disease *neural tube defects *migraine *thrombosis *preeclampsia *cleft lip/palate *autism *depression *schizophrenia *cancer, including **gastric cancer With regard to gastric cancer, a meta-analysis combining 1... | ||||||
| 35.0 | rs1801260(C;T) | |||||
| rs1801260, a SNP in the CLOCK gene known as 3111 T/C, has been reported to influence sleep and activity patterns in patients affected by bipolar depression. From this article's abstract: 'Compared to T/T homozygotes, carriers of the C allele had a similar degree of severity of depression, but showed higher activity levels in the evening, a delayed sleep onset (mean 79 min later), and a reduced amount of sleep during the night (mean 75 min less).' | ||||||
| 35.0 | rs1695(A;A) | normal | ||||
| This snp, in the GSTP1 gene influences asthma risk mentioned in this [http://news.bbc.co.uk/2/hi/uk_news/scotland/tayside_and_central/5251968.stm bbc article] also known as GSTP1Val105, or GSTP1 Ile105Val This [http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&dopt=AbstractPlus&list_uids=16882827&query_hl=1&itool=pubmed_docsum research paper] shows that 13- to 21-year-olds exposed to tobacco smoke at home, with this mutation had more severe asthma than those without the mutation. Several papers published findings associating GSTP1 Ile105Val genotypes with bronchial, childhood, or atopic asthma. Note that some studies, however, have not observed any association between this SNP and asthma in certain populations , or even more paradoxically, have observed that rs1695(G;G)... | ||||||
| 35.0 | rs12953717(C;C) | 1x normal risk for colorectal cancer | ||||
| rs12953717 is one of 3 SNPs in the SMAD7 gene associated with risk for colorectal cancer, based on a large study (7,400+ cases) conducted in the UK. The odds ratios show an increased risk for the minor rs12953717(T) allele; the OR for (T;T) homozygotes is 1.37 (CI: 1.25-1.5), and for (C;T) heterozygotes 1.11 (CI: 1.03-1.2), overall p=9x10-12. | ||||||
| 35.0 | rs10494366(T;T) | Shorter QT interval | ||||
| rs10494366, a SNP in the NOS1AP gene encoding the nitric oxide synthase I 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 minor h... | ||||||
| 35.0 | rs3731239(T;T) | normal risk | ||||
| rs3731239 shows a slight protective association against breast cancer in a British study involving ~2300 patients. The odds ratio for the (C;C) vs (T;T) homozygotes is 0.90 (CI: 0.79-1.03, p=0.013). | ||||||
| 35.0 | rs10790212(C;T) | |||||
| Category:is a snp associated with schizophrenia rs10790212-rs4938445-rs497768 | ||||||
| 35.0 | rs6587852(A;C) | |||||
| rs6587852 is one of 6 SNPs found upstream of an (uncharacterized) gene known as FLJ10986 that have been found to be overrepresented in 1,152 patients with sporadic amyotrophic lateral sclerosis (ALS). | ||||||
| 35.6 | rs6458307(C;T) | 0.8x risk | ||||
| rs6458307 has been reported in a large study to be associated with bipolar disorder. The risk allele (oriented to the dbSNP entry) is (T); the odds ratio associated with heterozygotes is 0.84 (CI 0.75-0.96), and for homozygotes, 1.39 (CI 1.13-1.69). | ||||||
| 35.6 | rs980989(G;T) | |||||
| 13 single-nucleotide polymorphisms (SNPs) in 723 members of 179 Finnish Bipolar disorder families. *rs980989 psychomotor processing speed | ||||||
| 35.6 | rs2300478(G;T) | 1.7x risk for restless legs | ||||
| rs2300478, a SNP located in the MEIS1 gene, has been linked to restless legs syndrome, a common sleep disorder, with an overall odds ratio of 1.78 (CI: 1.52-2.09) for the (G) risk allele. The association from this region that gives the highest association to restless legs syndrome, however, is a haplotype consisting of the rs6710341(A) and rs12469063(G) alleles. This haplotype gives rise to an odds ratio of 2.75 (CI: 2.23-3.41). | ||||||
| 36.7 | rs358806(A;C) | 0.9x risk | ||||
| rs358806 has been reported in a large study to be associated with type-2 diabetes. The risk allele (oriented to the dbSNP entry) is (A); the odds ratio associated with heterozygotes is 0.86 (CI 0.75-0.97), and for homozygotes, 1.78 (CI 1.34-2.36). | ||||||
| 36.7 | rs4988300(G;G) | |||||
| linked to obesity | ||||||
| 36.7 | rs4778241(C;C) | blue eye color if part of blue eye color haplotype | ||||
| rs4778241 is part of a haplotype spanning 166kB on chromosome 15, defined by 13 SNPs listed below, 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 ethnic groups. The 'h-1' haplotype found in homozygous state in 97% of individuals with blue eye color is composed as follows : rs4778241(C) rs1129038(A) rs12593929(A) rs12913832(G) rs7183877(C) rs3935591(G) rs7170852(A) rs2238289(T) rs3940272(C) rs8028689(T) rs2240203(A) rs11631797(G) rs916977(G) |
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| 36.7 | rs6971091(A;G) | >2x increased risk for familial obesity | ||||
| rs6971091 is a SNP on chromosome 7 that has been linked to obesity. In a study of 400+ patients, rs6971091(A) allele carriers had an odds ratio of at least 2 for obesity defined by both body mass index (BMI) and leptin levels. | ||||||
| 36.7 | rs7652331(C;T) | normal risk | ||||
| rs7652331 is one of seven SNPs found in a combined study of over 1,000 patients to be associated with increased risk for prostate cancer. The risk allele for this SNP is (T); and while the odds ratio was not specifically reported, the probability of false significance (not permuted though) was given as p=4.4 x 10e-5, using a dominant model of risk. | ||||||
| 36.7 | rs20541(C;T) | |||||
| rs20541 influences the effect of maternal smoking during pregnancy and persistent childhood asthma | ||||||
| 36.7 | rs989638(A;A) | |||||
| This SNP is part of a specific haplotype, rs989638-rs1034428-rs2227098 G-T-G (as oriented with respect to dbSNP) with an overall ~2x higher risk in females for schizophrenia (p=0.0008). | ||||||
| 36.7 | rs10516487(C;T) | |||||
| rs17266594 rs10516487 rs3733197 gene associated with systemic lupus erythematosus. | ||||||
| 36.7 | rs2437896(C;T) | |||||
| This SNP was identified as a 'core' SNP helping to define one (of nine total) runs of homozygosity (ROH) potentially associated with increased risk for schizophrenia. Each region consists of at least 100 consecutive SNPs, generally spanning 500KB or more, for which both chromosomes in an individual were homozygous. The overall odds ratio for schizophrenia associated with inheriting 1, 2, or 3 of these 9 ROHs was calculated to be 3.3, 5.4, or 24, respectively, with 95% confidence intervals of (1.9-5.7), (3.7-16.1), and (6.9-83.9), respectively. This particular SNP, rs2437896, was deemed to be the core SNP of a region on chromosome 2 with 115 SNPs spanning 774KB from 2:175671012 to 2:176445047 (build 35). Potentially independent of the ROH, the risk allele for this SNP in the orientation as ... | ||||||
| 36.7 | ||||||