rs111033294
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;G) | 3 | Carrier of a recessive deafness mutation |
| Make rs111033294(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 20188965 |
| Gene | GJB2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs111033294 |
| dbSNP (classic) | rs111033294 |
| ClinGen | rs111033294 |
| ebi | rs111033294 |
| HLI | rs111033294 |
| Exac | rs111033294 |
| Gnomad | rs111033294 |
| Varsome | rs111033294 |
| LitVar | rs111033294 |
| Map | rs111033294 |
| PheGenI | rs111033294 |
| Biobank | rs111033294 |
| 1000 genomes | rs111033294 |
| hgdp | rs111033294 |
| ensembl | rs111033294 |
| geneview | rs111033294 |
| scholar | rs111033294 |
| rs111033294 | |
| pharmgkb | rs111033294 |
| gwascentral | rs111033294 |
| openSNP | rs111033294 |
| 23andMe | rs111033294 |
| SNPshot | rs111033294 |
| SNPdbe | rs111033294 |
| MSV3d | rs111033294 |
| GWAS Ctlg | rs111033294 |
| GMAF | 0.0004591 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs111033294(G;G) |
| Alt | rs111033294(G;G) |
| Reference | Rs111033294(A;A) |
| Significance | Pathogenic |
| Disease | Deafness Hearing impairment Nonsyndromic hearing loss and deafness |
| Variation | info |
| Gene | GJB2 |
| CLNDBN | Deafness, autosomal recessive 1A Hearing impairment Nonsyndromic hearing loss and deafness |
| Reversed | 1 |
| HGVS | NC_000013.10:g.20763104T>C |
| CLNSRC | ClinVar University of Chicago |
| CLNACC | RCV000037868.4, RCV000146025.1, RCV000211783.1, |
[PMID 12172394] Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing.
[PMID 15967879] GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients.
