rs372710475
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of a DFNB7/11 deafness mutation |
| Make rs372710475(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 9 |
| Position | 72791994 |
| Gene | TMC1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs372710475 |
| dbSNP (classic) | rs372710475 |
| ClinGen | rs372710475 |
| ebi | rs372710475 |
| HLI | rs372710475 |
| Exac | rs372710475 |
| Gnomad | rs372710475 |
| Varsome | rs372710475 |
| LitVar | rs372710475 |
| Map | rs372710475 |
| PheGenI | rs372710475 |
| Biobank | rs372710475 |
| 1000 genomes | rs372710475 |
| hgdp | rs372710475 |
| ensembl | rs372710475 |
| geneview | rs372710475 |
| scholar | rs372710475 |
| rs372710475 | |
| pharmgkb | rs372710475 |
| gwascentral | rs372710475 |
| openSNP | rs372710475 |
| 23andMe | rs372710475 |
| SNPshot | rs372710475 |
| SNPdbe | rs372710475 |
| MSV3d | rs372710475 |
| GWAS Ctlg | rs372710475 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs372710475(T;T) |
| Alt | rs372710475(T;T) |
| Reference | Rs372710475(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Nonsyndromic hearing loss and deafness not specified |
| Variation | info |
| Gene | TMC1 |
| CLNDBN | Nonsyndromic hearing loss and deafness not specified |
| Reversed | 0 |
| HGVS | NC_000009.11:g.75406910C>T |
| CLNSRC | |
| CLNACC | RCV000155854.1, RCV000407406.1, |
