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rs17696736 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 1.34 (CI 1.16-1.53), and for homozygotes, 1.94 (CI 1.65-2.29). [PMID 17554300]
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 1.22 (CI 1.15â€“1.28). [PMID 17554260]
|Condition||Type 1 diabetes|
|Trait||Type 1 diabetes|
|Title||Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci|
|Odds Ratio||NR NR|
[PMID 18077426] Runs of homozygosity reveal highly penetrant recessive loci in schizophrenia.
[PMID 19565500] Variants in TNFAIP3, STAT4, and C12orf30 loci associated with multiple autoimmune diseases are also associated with juvenile idiopathic arthritis
[PMID 18224312] Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment.
[PMID 18423522] Estimating odds ratios in genome scans: an approximate conditional likelihood approach.
[PMID 18533027] Worldwide population differentiation at disease-associated SNPs.
[PMID 18556337] Impact of diabetes susceptibility loci on progression from pre-diabetes to diabetes in at-risk individuals of the diabetes prevention trial-type 1 (DPT-1).
[PMID 18840781] Follow-up analysis of genome-wide association data identifies novel loci for type 1 diabetes.
[PMID 18853133] Gene variants influencing measures of inflammation or predisposing to autoimmune and inflammatory diseases are not associated with the risk of type 2 diabetes.
[PMID 19140132] Unbiased estimation of odds ratios: combining genomewide association scans with replication studies.
[PMID 19359276] Identification of AF4/FMR2 family, member 3 (AFF3) as a novel rheumatoid arthritis susceptibility locus and confirmation of two further pan-autoimmune susceptibility genes.
[PMID 19639606] Correcting "winner's curse" in odds ratios from genomewide association findings for major complex human diseases.
[PMID 19838195] A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus.
[PMID 19956105] Reassessment of the type I diabetes association of the OAS1 locus.
[PMID 19956108] Analysis of 55 autoimmune disease and type II diabetes loci: further confirmation of chromosomes 4q27, 12q13.2 and 12q24.13 as type I diabetes loci, and support for a new locus, 12q13.3-q14.1.
[PMID 20089178] Allelic variants in the PHTF1-PTPN22, C12orf30 and CD226 regions as candidate susceptibility factors for the type 1 diabetes in the Estonian population.
[PMID 20369022] Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations.
[PMID 20722033] The susceptibility loci juvenile idiopathic arthritis shares with other autoimmune diseases extend to PTPN2, COG6, and ANGPT1.
|qualified_impact||Insufficiently evaluated pathogenic|
[PMID 23297363] Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot.
|Title||Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.|
|Odds Ratio||1.10 [1.06-1.14]|