rs111033296
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;G) | 3 | Carrier of a recessive deafness mutation |
| Make rs111033296(A;A) |
| Make rs111033296(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 20189463 |
| Gene | GJB2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs111033296 |
| dbSNP (classic) | rs111033296 |
| ClinGen | rs111033296 |
| ebi | rs111033296 |
| HLI | rs111033296 |
| Exac | rs111033296 |
| Gnomad | rs111033296 |
| Varsome | rs111033296 |
| LitVar | rs111033296 |
| Map | rs111033296 |
| PheGenI | rs111033296 |
| Biobank | rs111033296 |
| 1000 genomes | rs111033296 |
| hgdp | rs111033296 |
| ensembl | rs111033296 |
| geneview | rs111033296 |
| scholar | rs111033296 |
| rs111033296 | |
| pharmgkb | rs111033296 |
| gwascentral | rs111033296 |
| openSNP | rs111033296 |
| 23andMe | rs111033296 |
| SNPshot | rs111033296 |
| SNPdbe | rs111033296 |
| MSV3d | rs111033296 |
| GWAS Ctlg | rs111033296 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs111033296(A;A) rs111033296(G;G) |
| Alt | rs111033296(A;A) rs111033296(G;G) |
| Reference | Rs111033296(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Deafness Nonsyndromic hearing loss and deafness |
| Variation | info |
| Gene | GJB2 |
| CLNDBN | Deafness, autosomal recessive 1A Nonsyndromic hearing loss and deafness |
| Reversed | 1 |
| HGVS | NC_000013.10:g.20763602G>C; NC_000013.10:g.20763602G>T |
| CLNSRC | ClinVar |
| CLNACC | RCV000169292.1, RCV000037813.2, |
[PMID 15150777] Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: genotypic and phenotypic analysis.
[PMID 16380907
] GJB2 mutations and degree of hearing loss: a multicenter study.
[PMID 19371219] Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing loss.
