rs367924428
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 rs367924428(A;A) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 9 |
| Position | 72789207 |
| Gene | TMC1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs367924428 |
| dbSNP (classic) | rs367924428 |
| ClinGen | rs367924428 |
| ebi | rs367924428 |
| HLI | rs367924428 |
| Exac | rs367924428 |
| Gnomad | rs367924428 |
| Varsome | rs367924428 |
| LitVar | rs367924428 |
| Map | rs367924428 |
| PheGenI | rs367924428 |
| Biobank | rs367924428 |
| 1000 genomes | rs367924428 |
| hgdp | rs367924428 |
| ensembl | rs367924428 |
| geneview | rs367924428 |
| scholar | rs367924428 |
| rs367924428 | |
| pharmgkb | rs367924428 |
| gwascentral | rs367924428 |
| openSNP | rs367924428 |
| 23andMe | rs367924428 |
| SNPshot | rs367924428 |
| SNPdbe | rs367924428 |
| MSV3d | rs367924428 |
| GWAS Ctlg | rs367924428 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs367924428(A;A) |
| Alt | rs367924428(A;A) |
| Reference | Rs367924428(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Deafness |
| Variation | info |
| Gene | TMC1 |
| CLNDBN | Deafness, autosomal recessive 7 |
| Reversed | 0 |
| HGVS | NC_000009.11:g.75404123G>A |
| CLNSRC | |
| CLNACC | RCV000268431.1, |
