rs2292239
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 1.7x risk | |
| (A;C) | 1.3x risk | |
| (C;C) | normal | |
| (T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 56088396 |
| Gene | ERBB3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2292239 |
| dbSNP (classic) | rs2292239 |
| ClinGen | rs2292239 |
| ebi | rs2292239 |
| HLI | rs2292239 |
| Exac | rs2292239 |
| Gnomad | rs2292239 |
| Varsome | rs2292239 |
| LitVar | rs2292239 |
| Map | rs2292239 |
| PheGenI | rs2292239 |
| Biobank | rs2292239 |
| 1000 genomes | rs2292239 |
| hgdp | rs2292239 |
| ensembl | rs2292239 |
| geneview | rs2292239 |
| scholar | rs2292239 |
| rs2292239 | |
| pharmgkb | rs2292239 |
| gwascentral | rs2292239 |
| openSNP | rs2292239 |
| 23andMe | rs2292239 |
| SNPshot | rs2292239 |
| SNPdbe | rs2292239 |
| MSV3d | rs2292239 |
| GWAS Ctlg | rs2292239 |
| GMAF | 0.3338 |
| Max Magnitude | 0 |
| ? | (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 17554260
]
| 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 |
| OMIM | 190151 |
| Desc | V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 3; ERBB3 |
| Variant | |
| Related | also |
[PMID 19951419] Confirmation of the genetic association of CTLA4 and PTPN22 with ANCA-associated vasculitis
| GWAS snp | |
|---|---|
| PMID | [PMID 21829393]
|
| 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 18252225] On the use of general control samples for genome-wide association studies: genetic matching highlights causal variants.
[PMID 18423522] Estimating odds ratios in genome scans: an approximate conditional likelihood approach.
[PMID 18462017] Mapping the genetic architecture of gene expression in human liver.
[PMID 18556337] 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 18853133] Gene variants influencing measures of inflammation or predisposing to autoimmune and inflammatory diseases are not associated with the risk of type 2 diabetes.
[PMID 18987646] The expanding genetic overlap between multiple sclerosis and type I diabetes.
[PMID 19061490] FitSNPs: highly differentially expressed genes are more likely to have variants associated with disease.
[PMID 19073967] Shared and distinct genetic variants in type 1 diabetes and celiac disease.
[PMID 19140132] Unbiased estimation of odds ratios: combining genomewide association scans with replication studies.
[PMID 19359276] 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 19639606] Correcting "winner's curse" in odds ratios from genomewide association findings for major complex human diseases.
[PMID 20668683] 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.
[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 27331016] 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.
[PMID 29109006] The rs2292239 polymorphism in ERBB3 gene is associated with risk for type 1 diabetes mellitus in a Brazilian population.
[PMID 31976761] Associations of rs2300782 CAMK4, rs2292239 ERBB3 and rs10491034 ARHGAP22 with Diabetic Retinopathy Among Chinese Hui Population.
