Rs17696736

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Orientationplus
Geno Mag Summary
(A;A) 0 normal
(A;G) 1.3x risk
(G;G) 1.9x risk
(T;T) 0
ReferenceGRCh38 38.1/141
Chromosome12
Position112049014
GeneNAA25
is asnp
is mentioned by
dbSNPrs17696736
Exacrs17696736
PheGenIrs17696736
nextbiors17696736
hapmaprs17696736
1000 genomesrs17696736
hgdprs17696736
ensemblrs17696736
gopubmedrs17696736
geneviewrs17696736
scholarrs17696736
googlers17696736
pharmgkbrs17696736
gwascentralrs17696736
openSNPrs17696736
23andMers17696736
23andMe allrs17696736
SNP Nexus

SNPshotrs17696736
SNPdbers17696736
MSV3drs17696736
GMAF0.2025
Max Magnitude0
? (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 17554300OA-icon.png]

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 17554260OA-icon.png]

GWAS
SNP rs17696736
PubMedID [PMID 17554260OA-icon.png]
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 18978792OA-icon.png]
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 19565500OA-icon.png] Variants in TNFAIP3, STAT4, and C12orf30 loci associated with multiple autoimmune diseases are also associated with juvenile idiopathic arthritis

OMIM612520
DescDIABETES MELLITUS, INSULIN-DEPENDENT, 20; IDDM20
Variant
Relatedalso
OMIM222100
DescDIABETES MELLITUS, INSULIN-DEPENDENT; IDDM
Variant
Relatedalso
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[PMID 18533027OA-icon.png] Worldwide population differentiation at disease-associated SNPs.


[PMID 18556337OA-icon.png] 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).


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[PMID 18853133OA-icon.png] Gene variants influencing measures of inflammation or predisposing to autoimmune and inflammatory diseases are not associated with the risk of type 2 diabetes.


[PMID 19140132OA-icon.png] Unbiased estimation of odds ratios: combining genomewide association scans with replication studies.


[PMID 19359276OA-icon.png] 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 19639606OA-icon.png] Correcting "winner's curse" in odds ratios from genomewide association findings for major complex human diseases.


[PMID 19838195OA-icon.png] A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus.


[PMID 19956105OA-icon.png] Reassessment of the type I diabetes association of the OAS1 locus.


[PMID 19956108OA-icon.png] 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 20089178OA-icon.png] Allelic variants in the PHTF1-PTPN22, C12orf30 and CD226 regions as candidate susceptibility factors for the type 1 diabetes in the Estonian population.


[PMID 20369022OA-icon.png] Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations.


[PMID 20722033OA-icon.png] The susceptibility loci juvenile idiopathic arthritis shares with other autoimmune diseases extend to PTPN2, COG6, and ANGPT1.


GET Evidence
rs17696736
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.195312
summary



[PMID 23297363OA-icon.png] 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]