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rs11171739

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0
(C;C) 2 1.75x risk of developing Type-1 diabetes
(C;T) 1.5 1.34x risk of developing Type-1 diabetes
(T;T) 1 Normal risk of developing Type-1 diabetes
ReferenceGRCh38 38.1/141
Chromosome12
Position56076841
GeneERBB3
is asnp
is mentioned by
dbSNPrs11171739
ebirs11171739
HLIrs11171739
Exacrs11171739
Varsomers11171739
Maprs11171739
PheGenIrs11171739
hapmaprs11171739
1000 genomesrs11171739
hgdprs11171739
ensemblrs11171739
gopubmedrs11171739
geneviewrs11171739
scholarrs11171739
googlers11171739
pharmgkbrs11171739
gwascentralrs11171739
openSNPrs11171739
23andMers11171739
23andMe allrs11171739
SNP Nexus

SNPshotrs11171739
SNPdbers11171739
MSV3drs11171739
GWAS Ctlgrs11171739
GMAF0.4573
Max Magnitude2
? (C;C) (C;T) (T;T) 28
rs11171739 has been reported in a large study to be associated with type-1 diabetes.

The risk allele (oriented to the dbSNP entry) is (C); the odds ratio associated with heterozygotes is 1.34 (CI 1.17-1.54), and for homozygotes, 1.75 (CI 1.48-2.06). [PMID 17554300OA-icon.png]

In an expanded follow-up study of >6,000 controls and 6,000 patients, in which rs2292239 was ultimately chosen to replace the nearby rs11171739 originally determined to be associated with type-1 diabetes, the heterozygote odds ratio for SNP rs11171739 was recalculated to be 1.22 (CI 1.17–1.29). [PMID 17554260OA-icon.png]

GWAS
SNP rs11171739
PubMedID [PMID 17554300OA-icon.png]
Condition Type 1 diabetes
Gene ERBB3
Risk Allele C
pValue 1.00E-011
OR 1.34
95% CI 1.17-1.54




[PMID 22446964OA-icon.png] Genetics of gene expression in primary immune cells identifies cell type-specific master regulators and roles of HLA alleles


[PMID 18224312OA-icon.png] Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment.


[PMID 18533027OA-icon.png] Worldwide population differentiation at disease-associated SNPs.


[PMID 18846218OA-icon.png] Evolutionary signatures of common human cis-regulatory haplotypes.


[PMID 19361613OA-icon.png] Genetic control of human brain transcript expression in Alzheimer disease.


[PMID 20668683OA-icon.png] Genetically dependent ERBB3 expression modulates antigen presenting cell function and type 1 diabetes risk.


GET Evidence
rs11171739
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.484127
summary



[PMID 26320593] A single-nucleotide polymorphism of CCL21 rs951005 T>C is associated with susceptibility of polymyositis and such patients with interstitial lung disease in a Chinese Han population.