rs111033217
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;C) | 3 | Carrier of a recessive deafness mutation |
| Make rs111033217(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 20189538 |
| Gene | GJB2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs111033217 |
| dbSNP (classic) | rs111033217 |
| ClinGen | rs111033217 |
| ebi | rs111033217 |
| HLI | rs111033217 |
| Exac | rs111033217 |
| Gnomad | rs111033217 |
| Varsome | rs111033217 |
| LitVar | rs111033217 |
| Map | rs111033217 |
| PheGenI | rs111033217 |
| Biobank | rs111033217 |
| 1000 genomes | rs111033217 |
| hgdp | rs111033217 |
| ensembl | rs111033217 |
| geneview | rs111033217 |
| scholar | rs111033217 |
| rs111033217 | |
| pharmgkb | rs111033217 |
| gwascentral | rs111033217 |
| openSNP | rs111033217 |
| 23andMe | rs111033217 |
| SNPshot | rs111033217 |
| SNPdbe | rs111033217 |
| MSV3d | rs111033217 |
| GWAS Ctlg | rs111033217 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs111033217(C;C) |
| Alt | rs111033217(C;C) |
| Reference | Rs111033217(A;A) |
| Significance | Pathogenic |
| Disease | Deafness Nonsyndromic hearing loss and deafness not provided |
| Variation | info |
| Gene | GJB2 |
| CLNDBN | Deafness, autosomal recessive 1A Nonsyndromic hearing loss and deafness not provided |
| Reversed | 1 |
| HGVS | NC_000013.10:g.20763677T>G |
| CLNSRC | ClinVar |
| CLNACC | RCV000037855.5, RCV000211780.1, RCV000490112.1, |
[PMID 12172394] Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing.
[PMID 12925341] Genotypic and phenotypic correlations of DFNB1-related hearing impairment in the Midwestern United States.
