rs786201027
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;T) | 5 | DFNA36 deafness (predicted) |
| (T;T) | 0 | common in clinvar |
| Make rs786201027(A;A) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 9 |
| Position | 72791914 |
| Gene | TMC1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs786201027 |
| dbSNP (classic) | rs786201027 |
| ClinGen | rs786201027 |
| ebi | rs786201027 |
| HLI | rs786201027 |
| Exac | rs786201027 |
| Gnomad | rs786201027 |
| Varsome | rs786201027 |
| LitVar | rs786201027 |
| Map | rs786201027 |
| PheGenI | rs786201027 |
| Biobank | rs786201027 |
| 1000 genomes | rs786201027 |
| hgdp | rs786201027 |
| ensembl | rs786201027 |
| geneview | rs786201027 |
| scholar | rs786201027 |
| rs786201027 | |
| pharmgkb | rs786201027 |
| gwascentral | rs786201027 |
| openSNP | rs786201027 |
| 23andMe | rs786201027 |
| SNPshot | rs786201027 |
| SNPdbe | rs786201027 |
| MSV3d | rs786201027 |
| GWAS Ctlg | rs786201027 |
| Max Magnitude | 5 |
| ClinVar | |
|---|---|
| Risk | rs786201027(A;A) |
| Alt | rs786201027(A;A) |
| Reference | Rs786201027(T;T) |
| Significance | Pathogenic |
| Disease | Deafness |
| Variation | info |
| Gene | TMC1 |
| CLNDBN | Deafness, autosomal dominant 36 |
| Reversed | 0 |
| HGVS | NC_000009.11:g.75406830T>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000162325.2, |
