rs104894397
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;T) | 3 | Carrier of a recessive deafness mutation |
| (T;T) | 0 | common in clinvar |
| Make rs104894397(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 20189353 |
| Gene | GJB2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104894397 |
| dbSNP (classic) | rs104894397 |
| ClinGen | rs104894397 |
| ebi | rs104894397 |
| HLI | rs104894397 |
| Exac | rs104894397 |
| Gnomad | rs104894397 |
| Varsome | rs104894397 |
| LitVar | rs104894397 |
| Map | rs104894397 |
| PheGenI | rs104894397 |
| Biobank | rs104894397 |
| 1000 genomes | rs104894397 |
| hgdp | rs104894397 |
| ensembl | rs104894397 |
| geneview | rs104894397 |
| scholar | rs104894397 |
| rs104894397 | |
| pharmgkb | rs104894397 |
| gwascentral | rs104894397 |
| openSNP | rs104894397 |
| 23andMe | rs104894397 |
| SNPshot | rs104894397 |
| SNPdbe | rs104894397 |
| MSV3d | rs104894397 |
| GWAS Ctlg | rs104894397 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs104894397(C;C) |
| Alt | rs104894397(C;C) |
| Reference | Rs104894397(T;T) |
| Significance | Pathogenic |
| Disease | Deafness not provided Nonsyndromic hearing loss and deafness |
| Variation | info |
| Gene | GJB2 |
| CLNDBN | Deafness, autosomal recessive 1A not provided Nonsyndromic hearing loss and deafness Deafness, autosomal dominant 3a |
| Reversed | 1 |
| HGVS | NC_000013.10:g.20763492A>G |
| CLNSRC | HGMD OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000018526.34, RCV000080368.4, RCV000211765.1, RCV000412297.1, |
