rs376104748
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs376104748(C;C) |
| Make rs376104748(C;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 15 |
| Position | 43604408 |
| Gene | STRC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs376104748 |
| dbSNP (classic) | rs376104748 |
| ClinGen | rs376104748 |
| ebi | rs376104748 |
| HLI | rs376104748 |
| Exac | rs376104748 |
| Gnomad | rs376104748 |
| Varsome | rs376104748 |
| LitVar | rs376104748 |
| Map | rs376104748 |
| PheGenI | rs376104748 |
| Biobank | rs376104748 |
| 1000 genomes | rs376104748 |
| hgdp | rs376104748 |
| ensembl | rs376104748 |
| geneview | rs376104748 |
| scholar | rs376104748 |
| rs376104748 | |
| pharmgkb | rs376104748 |
| gwascentral | rs376104748 |
| openSNP | rs376104748 |
| 23andMe | rs376104748 |
| SNPshot | rs376104748 |
| SNPdbe | rs376104748 |
| MSV3d | rs376104748 |
| GWAS Ctlg | rs376104748 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs376104748(A;A) rs376104748(C;C) |
| Alt | rs376104748(A;A) rs376104748(C;C) |
| Reference | Rs376104748(G;G) |
| Significance | Pathogenic |
| Disease | Nonsyndromic hearing loss and deafness Deafness not provided |
| Variation | info |
| Gene | STRC |
| CLNDBN | Nonsyndromic hearing loss and deafness Deafness, autosomal dominant 16 not provided |
| Reversed | 0 |
| HGVS | NC_000015.9:g.43896606G>C |
| CLNSRC | |
| CLNACC | RCV000151950.1, RCV000225023.1, RCV000225080.1, RCV000494575.1, |
