rs546575046
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs546575046(A;A) |
| Make rs546575046(A;C) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 17 |
| Position | 18171691 |
| Gene | MYO15A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs546575046 |
| dbSNP (classic) | rs546575046 |
| ClinGen | rs546575046 |
| ebi | rs546575046 |
| HLI | rs546575046 |
| Exac | rs546575046 |
| Gnomad | rs546575046 |
| Varsome | rs546575046 |
| LitVar | rs546575046 |
| Map | rs546575046 |
| PheGenI | rs546575046 |
| Biobank | rs546575046 |
| 1000 genomes | rs546575046 |
| hgdp | rs546575046 |
| ensembl | rs546575046 |
| geneview | rs546575046 |
| scholar | rs546575046 |
| rs546575046 | |
| pharmgkb | rs546575046 |
| gwascentral | rs546575046 |
| openSNP | rs546575046 |
| 23andMe | rs546575046 |
| SNPshot | rs546575046 |
| SNPdbe | rs546575046 |
| MSV3d | rs546575046 |
| GWAS Ctlg | rs546575046 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs546575046(A;A) rs546575046(T;T) |
| Alt | rs546575046(A;A) rs546575046(T;T) |
| Reference | Rs546575046(C;C) |
| Significance | Pathogenic |
| Disease | Nonsyndromic hearing loss and deafness |
| Variation | info |
| Gene | MYO15A |
| CLNDBN | Nonsyndromic hearing loss and deafness |
| Reversed | 0 |
| HGVS | NC_000017.10:g.18075005C>A |
| CLNSRC | |
| CLNACC | RCV000156009.1, |
