rs876657729
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | Carrier of a DFNB7/11 deafness mutation |
| (G;G) | 0 | common in clinvar |
| Make rs876657729(A;A) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 9 |
| Position | 72805492 |
| Gene | TMC1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs876657729 |
| dbSNP (classic) | rs876657729 |
| ClinGen | rs876657729 |
| ebi | rs876657729 |
| HLI | rs876657729 |
| Exac | rs876657729 |
| Gnomad | rs876657729 |
| Varsome | rs876657729 |
| LitVar | rs876657729 |
| Map | rs876657729 |
| PheGenI | rs876657729 |
| Biobank | rs876657729 |
| 1000 genomes | rs876657729 |
| hgdp | rs876657729 |
| ensembl | rs876657729 |
| geneview | rs876657729 |
| scholar | rs876657729 |
| rs876657729 | |
| pharmgkb | rs876657729 |
| gwascentral | rs876657729 |
| openSNP | rs876657729 |
| 23andMe | rs876657729 |
| SNPshot | rs876657729 |
| SNPdbe | rs876657729 |
| MSV3d | rs876657729 |
| GWAS Ctlg | rs876657729 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs876657729(A;A) |
| Alt | rs876657729(A;A) |
| Reference | Rs876657729(G;G) |
| Significance | Pathogenic |
| Disease | Nonsyndromic hearing loss and deafness |
| Variation | info |
| Gene | TMC1 |
| CLNDBN | Nonsyndromic hearing loss and deafness |
| Reversed | 0 |
| HGVS | NC_000009.11:g.75420408G>A |
| CLNSRC | |
| CLNACC | RCV000214242.1, |
