{{Rsnum
|rsid=11171739
|Gene=ERBB3
|Chromosome=12
|position=56076841
|Orientation=plus
|GMAF=0.4573
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 16.8 | 47.8 | 35.4
| HCB | 6.6 | 37.2 | 56.2
| JPT | 2.7 | 43.4 | 54.0
| YRI | 72.8 | 24.5 | 2.7
| ASW | 52.6 | 40.4 | 7.0
| CHB | 6.6 | 37.2 | 56.2
| CHD | 7.3 | 34.9 | 57.8
| GIH | 8.9 | 32.7 | 58.4
| LWK | 70.9 | 26.4 | 2.7
| MEX | 8.6 | 39.7 | 51.7
| MKK | 32.1 | 47.4 | 20.5
| TSI | 11.8 | 52.0 | 36.3
| HapMapRevision=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|17554300|OA=1
}}

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 1.17â€“1.29). {{PMID|17554260|OA=1
}}

{{GWAS Summary
|SNP=rs11171739
|PubMedID=17554300
|Condition=Type 1 diabetes
|Gene=ERBB3
|Risk Allele=C
|pValue=1.00E-011
|OR=1.34
|95CI=1.17-1.54
|OA=1
}}

{{PharmGKB
|RSID=rs11171739
|Name_s=
|Gene_s=RPS26, ERBB3
|Feature=
|Evidence=PubMed ID:17554300
|Annotation=A genome-wide association study in 2,000 individuals for each of 7 major diseases and a shared set of 3,000 controls found an association of this SNP with type 1 diabetes.
|Drugs=
|Drug Classes=
|Diseases=Diabetes Mellitus, Type 1
|Curation Level=Curated
|PharmGKB Accession ID=PA162355907
}}

{{PharmGKB
|RSID=rs11171739
|Name_s=
|Gene_s=RPS26, ERBB3
|Feature=
|Evidence=PubMed ID:17554300; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS 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: rs11171739-C). 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=PA162356638
}}

{{PMID Auto
|PMID=22446964
|Title=Genetics of gene expression in primary immune cells identifies cell type-specific master regulators and roles of HLA alleles
|OA=1
}}

{{PMID Auto
|PMID=18224312
|Title=Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment.
|OA=1
}}

{{PMID Auto
|PMID=18533027
|Title=Worldwide population differentiation at disease-associated SNPs.
|OA=1
}}

{{PMID Auto
|PMID=18846218
|Title=Evolutionary signatures of common human cis-regulatory haplotypes.
|OA=1
}}

{{PMID Auto
|PMID=19361613
|Title=Genetic control of human brain transcript expression in Alzheimer disease.
|OA=1
}}

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

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs11171739
|overall_frequency_n=61
|overall_frequency_d=126
|overall_frequency=0.484127
|n_genomes=30
|n_genomes_annotated=0
|n_haplomes=45
|n_articles=1
|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}}