Rs2292239

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is asnp
is mentioned by
dbSNPrs2292239
hapmaprs2292239
hgdprs2292239
ensemblrs2292239
gopubmedrs2292239
scholarrs2292239
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pharmgkbrs2292239
hgvbaseg2prs2292239
medrefsnprs2292239
23andMers2292239
SNP Nexus

GeneERBB3
Chromosome12
Orientationminus
Position54768446
GenotypeEffect
rs2292239(A;A)1.7x risk
rs2292239(A;C)1.3x risk
rs2292239(C;C)normal


Genotypes Magnitude Summary
Rs2292239(A;A) 1.7x risk
Rs2292239(A;C) 1.3x risk
Rs2292239(C;C) normal
Rs2292239(T;T)
In an expanded follow-up study of >6,000 controls and 6,000 patients, in which rs2292239 was chosen to replace the nearby rs11171739 originally determined to be associated with type-1 diabetes, the heterozygote odds ratio for this SNP was recalculated to be 1.28 (CI 1.20 - 1.36). [PMID 17554260]
? (A;A) (A;C) (C;C)
GWAS
SNP rs2292239
PubMedID [PMID 17554260]
Condition Type 1 diabetes
Gene ERBB3
Risk Allele A
pValue 2.00E-020
OR 1.28
95% CI 1.21-1.35


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 A
P-val 3E-16
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-25
Odds Ratio NR NR
Related to DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM according to omim 222100. See also


Related to V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 3; ERBB3 according to omim 190151. See also


PharmGKBPA162356632
Name
AnnotationGWAS Results: Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes (Initial Sample Size: 1,963 cases, 2,938 controls; Replication Sample Size: 4,000 cases, 5,000 controls, 2,997 trios; Risk Allele: rs2292239-A).
GeneERBB3
Featue
EvidencePubMed ID:17554260; 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