rs777777359
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 rs777777359(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 9 |
| Position | 72820888 |
| Gene | TMC1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs777777359 |
| dbSNP (classic) | rs777777359 |
| ClinGen | rs777777359 |
| ebi | rs777777359 |
| HLI | rs777777359 |
| Exac | rs777777359 |
| Gnomad | rs777777359 |
| Varsome | rs777777359 |
| LitVar | rs777777359 |
| Map | rs777777359 |
| PheGenI | rs777777359 |
| Biobank | rs777777359 |
| 1000 genomes | rs777777359 |
| hgdp | rs777777359 |
| ensembl | rs777777359 |
| geneview | rs777777359 |
| scholar | rs777777359 |
| rs777777359 | |
| pharmgkb | rs777777359 |
| gwascentral | rs777777359 |
| openSNP | rs777777359 |
| 23andMe | rs777777359 |
| SNPshot | rs777777359 |
| SNPdbe | rs777777359 |
| MSV3d | rs777777359 |
| GWAS Ctlg | rs777777359 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs777777359(T;T) |
| Alt | rs777777359(T;T) |
| Reference | Rs777777359(C;C) |
| Significance | Pathogenic |
| Disease | Deafness |
| Variation | info |
| Gene | TMC1 |
| CLNDBN | Deafness, autosomal recessive 7 |
| Reversed | 0 |
| HGVS | NC_000009.11:g.75435804C>T |
| CLNSRC | |
| CLNACC | RCV000225031.1, RCV000225097.1, |
