rs28929485
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 6 | Deafness and keratitis; possible dominant or recessive |
| (G;G) | 0 | |
| (T;T) | 6 | Deafness and keratitis; possible dominant or recessive |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 20189532 |
| Gene | GJB2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28929485 |
| dbSNP (classic) | rs28929485 |
| ClinGen | rs28929485 |
| ebi | rs28929485 |
| HLI | rs28929485 |
| Exac | rs28929485 |
| Gnomad | rs28929485 |
| Varsome | rs28929485 |
| LitVar | rs28929485 |
| Map | rs28929485 |
| PheGenI | rs28929485 |
| Biobank | rs28929485 |
| 1000 genomes | rs28929485 |
| hgdp | rs28929485 |
| ensembl | rs28929485 |
| geneview | rs28929485 |
| scholar | rs28929485 |
| rs28929485 | |
| pharmgkb | rs28929485 |
| gwascentral | rs28929485 |
| openSNP | rs28929485 |
| 23andMe | rs28929485 |
| SNPshot | rs28929485 |
| SNPdbe | rs28929485 |
| MSV3d | rs28929485 |
| GWAS Ctlg | rs28929485 |
| Max Magnitude | 6 |
This variant has been reported for both recessive and dominant forms of both deafness and keratitis-ichthyosis-deafness syndrome.
| ClinVar | |
|---|---|
| Risk | Rs28929485(G;G) Rs28929485(T;T) |
| Alt | Rs28929485(G;G) Rs28929485(T;T) |
| Reference | Rs28929485(C;C) |
| Significance | Pathogenic |
| Disease | Keratitis-ichthyosis-deafness syndrome not specified |
| Variation | info |
| Gene | GJB2 |
| CLNDBN | Keratitis-ichthyosis-deafness syndrome, autosomal dominant not specified |
| Reversed | 1 |
| HGVS | NC_000013.10:g.20763671G>A; NC_000013.10:g.20763671G>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000018549.29, RCV000156624.1, |
