{{Rsnum
|rsid=2292239
|Gene=ERBB3
|Chromosome=12
|position=56088396
|Orientation=minus
|GMAF=0.3338
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene_s=ERBB3
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;C)
| geno3=(C;C)
| CEU | 12.5 | 41.1 | 46.4
| HCB | 5.8 | 37.2 | 56.9
| JPT | 2.7 | 41.6 | 55.8
| YRI | 20.4 | 50.3 | 29.3
| ASW | 15.8 | 40.4 | 43.9
| CHB | 5.8 | 37.2 | 56.9
| CHD | 7.3 | 28.4 | 64.2
| GIH | 6.9 | 25.7 | 67.3
| LWK | 23.6 | 52.7 | 23.6
| MEX | 5.2 | 32.8 | 62.1
| MKK | 12.2 | 46.8 | 41.0
| TSI | 7.8 | 46.1 | 46.1
| HapMapRevision=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|17554260|OA=1
}}

{{GWAS Summary
|SNP=rs2292239
|PubMedID=17554260
|Condition=Type 1 diabetes
|Gene=ERBB3
|Risk Allele=A
|pValue=2.00E-020
|OR=1.28
|95CI=1.21-1.35
|OA=1
}}

{{PMID Auto GWAS
|PMID=18978792
|Trait=Type 1 diabetes
|Title=Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci
|RiskAllele=A
|Pval=3E-16
|OR=NR
|ORtxt=NR
|OA=1
}}
{{PMID Auto GWAS
|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
|RiskAllele=
|Pval=2E-25
|OR=NR
|ORtxt=NR
|OA=1
}}

{{omim
|desc=DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM
|id=222100
|rsnum=2292239
}}

{{omim
|desc=V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 3; ERBB3
|id=190151
|rsnum=2292239
}}

{{PharmGKB
|RSID=rs2292239
|Name_s=
|Gene_s=ERBB3
|Feature=
|Evidence=PubMed ID:18978792; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS results: Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci. (Initial Sample Size: 3,561 cases, 4,646 controls; Replication Sample Size: 6,225 cases, 6,946 controls, 3,064 trios); (Region: 12q13.2; Reported Gene(s): ERBB3; Risk Allele: rs2292239-A); (p-value= 0.0000000000000003).This variant is associated with Type 1 diabetes.
|Drugs=
|Drug Classes=
|Diseases=Diabetes Mellitus; Diabetes Mellitus, Type 1
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164740755
}}

{{PMID Auto
|PMID=19951419
|Title=Confirmation of the genetic association of CTLA4 and PTPN22 with ANCA-associated vasculitis
|OA=1
}}

{{PharmGKB
|RSID=rs2292239
|Name_s=
|Gene_s=ERBB3
|Feature=
|Evidence=PubMed ID:17554260; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS 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).
|Drugs=
|Drug Classes=
|Diseases=Diabetes Mellitus; Diabetes Mellitus, Type 1
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA162356632
}}

{{PMID Auto GWAS
|PMID=21829393
|Trait=None
|Title=Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.
|RiskAllele=T
|Pval=3E-27
|OR=1.3000
|ORtxt=[NR]
|OA=1
}}

{{PMID Auto
|PMID=18252225
|Title=On the use of general control samples for genome-wide association studies: genetic matching highlights causal variants.
|OA=1
}}

{{PMID Auto
|PMID=18423522
|Title=Estimating odds ratios in genome scans: an approximate conditional likelihood approach.
|OA=1
}}

{{PMID Auto
|PMID=18462017
|Title=Mapping the genetic architecture of gene expression in human liver.
|OA=1
}}

{{PMID Auto
|PMID=18556337
|Title=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).
|OA=1
}}

{{PMID Auto
|PMID=18853133
|Title=Gene variants influencing measures of inflammation or predisposing to autoimmune and inflammatory diseases are not associated with the risk of type 2 diabetes.
|OA=1
}}

{{PMID Auto
|PMID=18987646
|Title=The expanding genetic overlap between multiple sclerosis and type I diabetes.
|OA=1
}}

{{PMID Auto
|PMID=19061490
|Title=FitSNPs: highly differentially expressed genes are more likely to have variants associated with disease.
|OA=1
}}

{{PMID Auto
|PMID=19073967
|Title=Shared and distinct genetic variants in type 1 diabetes and celiac disease.
|OA=1
}}

{{PMID Auto
|PMID=19140132
|Title=Unbiased estimation of odds ratios: combining genomewide association scans with replication studies.
|OA=1
}}

{{PMID Auto
|PMID=19359276
|Title=Identification of AF4/FMR2 family, member 3 (AFF3) as a novel rheumatoid arthritis susceptibility locus and confirmation of two further pan-autoimmune susceptibility genes.
|OA=1
}}

{{PMID Auto
|PMID=19639606
|Title=Correcting "winner's curse" in odds ratios from genomewide association findings for major complex human diseases.
|OA=1
}}

{{PMID Auto
|PMID=20668683
|Title=Genetically dependent ERBB3 expression modulates antigen presenting cell function and type 1 diabetes risk.
|OA=1
}}

{{PMID Auto
|PMID=21559886
|Title=Polymorphisms in chromosome region 12q13 and their influence on age at onset of type 1 diabetes.
}}

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2292239
|overall_frequency_n=88
|overall_frequency_d=128
|overall_frequency=0.6875
|n_genomes=49
|n_genomes_annotated=0
|n_haplomes=73
|n_articles=0
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
}}

{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}