rs202138002
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs202138002(A;A) |
| Make rs202138002(A;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 12 |
| Position | 132621535 |
| Gene | P2RX2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs202138002 |
| dbSNP (classic) | rs202138002 |
| ClinGen | rs202138002 |
| ebi | rs202138002 |
| HLI | rs202138002 |
| Exac | rs202138002 |
| Gnomad | rs202138002 |
| Varsome | rs202138002 |
| LitVar | rs202138002 |
| Map | rs202138002 |
| PheGenI | rs202138002 |
| Biobank | rs202138002 |
| 1000 genomes | rs202138002 |
| hgdp | rs202138002 |
| ensembl | rs202138002 |
| geneview | rs202138002 |
| scholar | rs202138002 |
| rs202138002 | |
| pharmgkb | rs202138002 |
| gwascentral | rs202138002 |
| openSNP | rs202138002 |
| 23andMe | rs202138002 |
| SNPshot | rs202138002 |
| SNPdbe | rs202138002 |
| MSV3d | rs202138002 |
| GWAS Ctlg | rs202138002 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs202138002(A;A) rs202138002(C;C) |
| Alt | rs202138002(A;A) rs202138002(C;C) |
| Reference | Rs202138002(G;G) |
| Significance | Pathogenic |
| Disease | Deafness |
| Variation | info |
| Gene | P2RX2 |
| CLNDBN | Deafness, autosomal dominant 41 |
| Reversed | 0 |
| HGVS | NC_000012.11:g.133198121G>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000143843.2, |
