rs147231991
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs147231991(G;T) |
| Make rs147231991(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 21 |
| Position | 42388436 |
| Gene | TMPRSS3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs147231991 |
| dbSNP (classic) | rs147231991 |
| ClinGen | rs147231991 |
| ebi | rs147231991 |
| HLI | rs147231991 |
| Exac | rs147231991 |
| Gnomad | rs147231991 |
| Varsome | rs147231991 |
| LitVar | rs147231991 |
| Map | rs147231991 |
| PheGenI | rs147231991 |
| Biobank | rs147231991 |
| 1000 genomes | rs147231991 |
| hgdp | rs147231991 |
| ensembl | rs147231991 |
| geneview | rs147231991 |
| scholar | rs147231991 |
| rs147231991 | |
| pharmgkb | rs147231991 |
| gwascentral | rs147231991 |
| openSNP | rs147231991 |
| 23andMe | rs147231991 |
| SNPshot | rs147231991 |
| SNPdbe | rs147231991 |
| MSV3d | rs147231991 |
| GWAS Ctlg | rs147231991 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs147231991(T;T) |
| Alt | rs147231991(T;T) |
| Reference | Rs147231991(G;G) |
| Significance | Pathogenic |
| Disease | Nonsyndromic hearing loss and deafness Nonsyndromic Hearing Loss not provided Deafness |
| Variation | info |
| Gene | TMPRSS3 |
| CLNDBN | Nonsyndromic hearing loss and deafness Nonsyndromic Hearing Loss, Recessive not provided Deafness, autosomal recessive 8 |
| Reversed | 0 |
| HGVS | NC_000021.8:g.43808545G>T |
| CLNSRC | ClinVar |
| CLNACC | RCV000039356.3, RCV000322137.1, RCV000413170.1, RCV000454169.1, |
