rs193922610
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 7 | Von Hippel-Lindau syndrome mutation |
| Make rs193922610(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 10146544 |
| Gene | VHL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs193922610 |
| dbSNP (classic) | rs193922610 |
| ClinGen | rs193922610 |
| ebi | rs193922610 |
| HLI | rs193922610 |
| Exac | rs193922610 |
| Gnomad | rs193922610 |
| Varsome | rs193922610 |
| LitVar | rs193922610 |
| Map | rs193922610 |
| PheGenI | rs193922610 |
| Biobank | rs193922610 |
| 1000 genomes | rs193922610 |
| hgdp | rs193922610 |
| ensembl | rs193922610 |
| geneview | rs193922610 |
| scholar | rs193922610 |
| rs193922610 | |
| pharmgkb | rs193922610 |
| gwascentral | rs193922610 |
| openSNP | rs193922610 |
| 23andMe | rs193922610 |
| SNPshot | rs193922610 |
| SNPdbe | rs193922610 |
| MSV3d | rs193922610 |
| GWAS Ctlg | rs193922610 |
| Max Magnitude | 7 |
| ClinVar | |
|---|---|
| Risk | rs193922610(T;T) |
| Alt | rs193922610(T;T) |
| Reference | Rs193922610(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Von Hippel-Lindau syndrome |
| Variation | info |
| Gene | VHL |
| CLNDBN | Von Hippel-Lindau syndrome |
| Reversed | 0 |
| HGVS | NC_000003.11:g.10188228C>T |
| CLNSRC | ClinVar LabCorp |
| CLNACC | RCV000030585.1, |
[PMID 12624160
] High frequency of novel germline mutations in the VHL gene in the heterogeneous population of Brazil.
