rs111033420
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs111033420(A;A) |
| Make rs111033420(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 20189126 |
| Gene | GJB2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs111033420 |
| dbSNP (classic) | rs111033420 |
| ClinGen | rs111033420 |
| ebi | rs111033420 |
| HLI | rs111033420 |
| Exac | rs111033420 |
| Gnomad | rs111033420 |
| Varsome | rs111033420 |
| LitVar | rs111033420 |
| Map | rs111033420 |
| PheGenI | rs111033420 |
| Biobank | rs111033420 |
| 1000 genomes | rs111033420 |
| hgdp | rs111033420 |
| ensembl | rs111033420 |
| geneview | rs111033420 |
| scholar | rs111033420 |
| rs111033420 | |
| pharmgkb | rs111033420 |
| gwascentral | rs111033420 |
| openSNP | rs111033420 |
| 23andMe | rs111033420 |
| SNPshot | rs111033420 |
| SNPdbe | rs111033420 |
| MSV3d | rs111033420 |
| GWAS Ctlg | rs111033420 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs111033420(A;A) |
| Alt | rs111033420(A;A) |
| Reference | Rs111033420(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Nonsyndromic hearing loss and deafness |
| Variation | info |
| Gene | GJB2 |
| CLNDBN | Nonsyndromic hearing loss and deafness |
| Reversed | 1 |
| HGVS | NC_000013.10:g.20763265G>T |
| CLNSRC | ClinVar |
| CLNACC | RCV000037856.2, |
[PMID 12865758] Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands.
[PMID 19366456
] GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment.
