rs17696736
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | normal |
| (A;G) | 2 | 1.34x risk of type-1 diabetes |
| (G;G) | 2.5 | 1.94x risk of type-1 diabetes |
| (T;T) | 0 |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 112049014 |
| Gene | NAA25 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs17696736 |
| dbSNP (classic) | rs17696736 |
| ClinGen | rs17696736 |
| ebi | rs17696736 |
| HLI | rs17696736 |
| Exac | rs17696736 |
| Gnomad | rs17696736 |
| Varsome | rs17696736 |
| LitVar | rs17696736 |
| Map | rs17696736 |
| PheGenI | rs17696736 |
| Biobank | rs17696736 |
| 1000 genomes | rs17696736 |
| hgdp | rs17696736 |
| ensembl | rs17696736 |
| geneview | rs17696736 |
| scholar | rs17696736 |
| rs17696736 | |
| pharmgkb | rs17696736 |
| gwascentral | rs17696736 |
| openSNP | rs17696736 |
| 23andMe | rs17696736 |
| SNPshot | rs17696736 |
| SNPdbe | rs17696736 |
| MSV3d | rs17696736 |
| GWAS Ctlg | rs17696736 |
| GMAF | 0.2025 |
| Max Magnitude | 2.5 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
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 1.15–1.28). [PMID 17554260]
| GWAS | |
|---|---|
| SNP | rs17696736 |
| PubMedID | [PMID 17554260]
|
| Condition | Type 1 diabetes |
| Gene | C12orf30 |
| Risk Allele | G |
| pValue | 2.00E-016 |
| OR | 1.22 |
| 95% CI | 1.15-1.28 |
| GWAS snp | |
|---|---|
| PMID | [PMID 18978792]
|
| Trait | Type 1 diabetes |
| Title | Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci |
| Risk Allele | G |
| P-val | 6E-18 |
| Odds Ratio | NR NR |
[PMID 19565500] Variants in TNFAIP3, STAT4, and C12orf30 loci associated with multiple autoimmune diseases are also associated with juvenile idiopathic arthritis
[PMID 18077426] Runs of homozygosity reveal highly penetrant recessive loci in schizophrenia.
[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.
[PMID 23297363] Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot.
| GWAS snp | |
|---|---|
| PMID | [PMID 24262325]
|
| Trait | Ischemic stroke |
| Title | Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. |
| Risk Allele | G |
| P-val | 6E-8 |
| Odds Ratio | 1.10 [1.06-1.14] |
