rs370898981
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;G) | 3 | Carrier of a DFNB7/11 deafness mutation |
| Make rs370898981(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 72816213 |
| Gene | TMC1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs370898981 |
| dbSNP (classic) | rs370898981 |
| ClinGen | rs370898981 |
| ebi | rs370898981 |
| HLI | rs370898981 |
| Exac | rs370898981 |
| Gnomad | rs370898981 |
| Varsome | rs370898981 |
| LitVar | rs370898981 |
| Map | rs370898981 |
| PheGenI | rs370898981 |
| Biobank | rs370898981 |
| 1000 genomes | rs370898981 |
| hgdp | rs370898981 |
| ensembl | rs370898981 |
| geneview | rs370898981 |
| scholar | rs370898981 |
| rs370898981 | |
| pharmgkb | rs370898981 |
| gwascentral | rs370898981 |
| openSNP | rs370898981 |
| 23andMe | rs370898981 |
| SNPshot | rs370898981 |
| SNPdbe | rs370898981 |
| MSV3d | rs370898981 |
| GWAS Ctlg | rs370898981 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs370898981(G;G) |
| Alt | rs370898981(G;G) |
| Reference | Rs370898981(A;A) |
| Significance | Pathogenic |
| Disease | Nonsyndromic hearing loss and deafness Nonsyndromic Hearing Loss not provided Nonsyndromic Hearing Loss |
| Variation | info |
| Gene | TMC1 |
| CLNDBN | Nonsyndromic hearing loss and deafness Nonsyndromic Hearing Loss, Recessive not provided Nonsyndromic Hearing Loss, Dominant |
| Reversed | 0 |
| HGVS | NC_000009.11:g.75431129A>G |
| CLNSRC | ClinVar |
| CLNACC | RCV000041134.3, RCV000267791.1, RCV000293958.1, RCV000357976.1, |
