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rs2292239

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 1.7x risk
(A;C) 1.3x risk
(C;C) normal
(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position56088396
GeneERBB3
is asnp
is mentioned by
dbSNPrs2292239
ClinGenrs2292239
ebirs2292239
HLIrs2292239
Exacrs2292239
Varsomers2292239
Maprs2292239
PheGenIrs2292239
hapmaprs2292239
1000 genomesrs2292239
hgdprs2292239
ensemblrs2292239
gopubmedrs2292239
geneviewrs2292239
scholarrs2292239
googlers2292239
pharmgkbrs2292239
gwascentralrs2292239
openSNPrs2292239
23andMers2292239
23andMe allrs2292239
SNP Nexus

SNPshotrs2292239
SNPdbers2292239
MSV3drs2292239
GWAS Ctlgrs2292239
GMAF0.3338
Max Magnitude
? (A;A) (A;C) (C;C) 28
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 17554260OA-icon.png]
GWAS
SNP rs2292239
PubMedID [PMID 17554260OA-icon.png]
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 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 A
P-val 3E-16
Odds Ratio NR NR
GWAS snp
PMID [PMID 19430480OA-icon.png]
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
OMIM222100
DescDIABETES MELLITUS, INSULIN-DEPENDENT; IDDM
Variant
Relatedalso
OMIM190151
DescV-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 3; ERBB3
Variant
Relatedalso
[PMID 19951419OA-icon.png] Confirmation of the genetic association of CTLA4 and PTPN22 with ANCA-associated vasculitis


GWAS snp
PMID [PMID 21829393OA-icon.png]
Trait
Title Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.
Risk Allele T
P-val 3E-27
Odds Ratio 1.3000 [NR]


[PMID 18252225OA-icon.png] On the use of general control samples for genome-wide association studies: genetic matching highlights causal variants.


[PMID 18423522OA-icon.png] Estimating odds ratios in genome scans: an approximate conditional likelihood approach.


[PMID 18462017OA-icon.png] Mapping the genetic architecture of gene expression in human liver.


[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).


[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 18987646OA-icon.png] The expanding genetic overlap between multiple sclerosis and type I diabetes.


[PMID 19061490OA-icon.png] FitSNPs: highly differentially expressed genes are more likely to have variants associated with disease.


[PMID 19073967OA-icon.png] Shared and distinct genetic variants in type 1 diabetes and celiac disease.


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


[PMID 21559886] Polymorphisms in chromosome region 12q13 and their influence on age at onset of type 1 diabetes.


GET Evidence
rs2292239
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.6875
summary



[PMID 25661663] Association of 32 type 1 diabetes risk loci in Pakistani patients


[PMID 26245339] Polymorphisms in the CTSH gene may influence the progression of diabetic retinopathy: a candidate-gene study in the Danish Cohort of Pediatric Diabetes 1987 (DCPD1987)


[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.


[PMID 27331016OA-icon.png] ERBB3-rs2292239 as primary type 1 diabetes association locus among non-HLA genes in Chinese.


[PMID 28646072] Genetic and Environmental Interactions Modify the Risk of Diabetes-Related Autoimmunity by 6 Years of Age: The TEDDY Study.