Rs12708716

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is asnp
is mentioned by
dbSNPrs12708716
hapmaprs12708716
hgdprs12708716
ensemblrs12708716
gopubmedrs12708716
scholarrs12708716
googlers12708716
pharmgkbrs12708716
hgvbaseg2prs12708716
medrefsnprs12708716
23andMers12708716
SNP Nexus

GeneKIAA0350
Chromosome16
Orientationplus
Position11087373
GenotypeEffect
rs12708716(A;A)1.6x risk
rs12708716(A;G)1.2x risk
rs12708716(G;G)normal


Genotypes Magnitude Summary
Rs12708716(A;A) 1.6x risk
Rs12708716(A;G) 1.2x risk
Rs12708716(G;G) 00 normal
rs12708716 has been reported in a large study to be associated with type-1 diabetes.

The risk allele (oriented to the dbSNP entry) is (A); the odds ratio associated with heterozygotes is 1.19 (CI 0.97-1.45), and for homozygotes, 1.55 (CI 1.27-1.89). [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 0.81 (CI 0.77-0.86). [PMID 17554260]

[PMID 18987646] Tested in a large multiple sclerosis data set consisting of 2369 trio families, 5737 cases and 10 296 unrelated controls, SNP rs12708716 was associated with disease risk (p = 1.6 x 10e-16)

? (A;A) (A;G) (G;G)
GWAS
SNP rs12708716
PubMedID [PMID 17554260]
Condition Type 1 diabetes
Gene KIAA0350
Risk Allele A
pValue 3.00E-018
OR 1.23
95% CI 1.16-1.30


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 7E-13
Odds Ratio NR NR
GWAS snp
PMID [PMID 19430480]
Trait Type 1 diabetes
Title Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes
Risk Allele
P-val 2E-16
Odds Ratio NR NR
Related to DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM according to omim 222100. See also


Related to C-TYPE LECTIN DOMAIN FAMILY 16, MEMBER A; CLEC16A according to omim 611303. See also


[PMID 19734133] A CLEC16A variant confers risk for juvenile idiopathic arthritis and anti-CCP negative rheumatoid arthritis

PharmGKBPA162356641
Name
AnnotationGWAS Results: Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls (Initial Sample Size: 1,963 cases, 2,938 controls; Replication Sample Size: (see Todd 2007); Risk Allele: rs12708716-A). This variant is associated with type 1 diabetes.
Gene-
Featue
EvidencePubMed ID:17554300; Web Resource:http://www.genome.gov/gwastudies/
Drugs
DiseasesDiabetes Mellitus, Diabetes Mellitus, Type 1
Curation LevelNon-Curated


[PMID 19951419] Confirmation of the genetic association of CTLA4 and PTPN22 with ANCA-associated vasculitis