rs374793617
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs374793617(C;T) |
| Make rs374793617(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 21 |
| Position | 42388532 |
| Gene | TMPRSS3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs374793617 |
| dbSNP (classic) | rs374793617 |
| ClinGen | rs374793617 |
| ebi | rs374793617 |
| HLI | rs374793617 |
| Exac | rs374793617 |
| Gnomad | rs374793617 |
| Varsome | rs374793617 |
| LitVar | rs374793617 |
| Map | rs374793617 |
| PheGenI | rs374793617 |
| Biobank | rs374793617 |
| 1000 genomes | rs374793617 |
| hgdp | rs374793617 |
| ensembl | rs374793617 |
| geneview | rs374793617 |
| scholar | rs374793617 |
| rs374793617 | |
| pharmgkb | rs374793617 |
| gwascentral | rs374793617 |
| openSNP | rs374793617 |
| 23andMe | rs374793617 |
| SNPshot | rs374793617 |
| SNPdbe | rs374793617 |
| MSV3d | rs374793617 |
| GWAS Ctlg | rs374793617 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs374793617(T;T) |
| Alt | rs374793617(T;T) |
| Reference | Rs374793617(C;C) |
| Significance | Pathogenic |
| Disease | Nonsyndromic hearing loss and deafness |
| Variation | info |
| Gene | TMPRSS3 |
| CLNDBN | Nonsyndromic hearing loss and deafness |
| Reversed | 0 |
| HGVS | NC_000021.8:g.43808641C>T |
| CLNSRC | ClinVar |
| CLNACC | RCV000039350.2, |
