rs201018751
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs201018751(A;G) |
| Make rs201018751(G;G) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 21 |
| Position | 42375720 |
| Gene | TMPRSS3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs201018751 |
| dbSNP (classic) | rs201018751 |
| ClinGen | rs201018751 |
| ebi | rs201018751 |
| HLI | rs201018751 |
| Exac | rs201018751 |
| Gnomad | rs201018751 |
| Varsome | rs201018751 |
| LitVar | rs201018751 |
| Map | rs201018751 |
| PheGenI | rs201018751 |
| Biobank | rs201018751 |
| 1000 genomes | rs201018751 |
| hgdp | rs201018751 |
| ensembl | rs201018751 |
| geneview | rs201018751 |
| scholar | rs201018751 |
| rs201018751 | |
| pharmgkb | rs201018751 |
| gwascentral | rs201018751 |
| openSNP | rs201018751 |
| 23andMe | rs201018751 |
| SNPshot | rs201018751 |
| SNPdbe | rs201018751 |
| MSV3d | rs201018751 |
| GWAS Ctlg | rs201018751 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs201018751(G;G) |
| Alt | rs201018751(G;G) |
| Reference | Rs201018751(A;A) |
| Significance | Probable-Pathogenic |
| Disease | Nonsyndromic hearing loss and deafness |
| Variation | info |
| Gene | TMPRSS3 |
| CLNDBN | Nonsyndromic hearing loss and deafness |
| Reversed | 0 |
| HGVS | NC_000021.8:g.43795829A>G |
| CLNSRC | |
| CLNACC | RCV000039341.3, |
