rs5030808
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 7 | Von Hippel-Lindau syndrome mutation |
| (C;G) | 7 | Von Hippel-Lindau syndrome mutation |
| (G;G) | 0 | common in clinvar |
| (G;T) | 7 | Von Hippel-Lindau syndrome mutation |
| Make rs5030808(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 10142124 |
| Gene | VHL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs5030808 |
| dbSNP (classic) | rs5030808 |
| ClinGen | rs5030808 |
| ebi | rs5030808 |
| HLI | rs5030808 |
| Exac | rs5030808 |
| Gnomad | rs5030808 |
| Varsome | rs5030808 |
| LitVar | rs5030808 |
| Map | rs5030808 |
| PheGenI | rs5030808 |
| Biobank | rs5030808 |
| 1000 genomes | rs5030808 |
| hgdp | rs5030808 |
| ensembl | rs5030808 |
| geneview | rs5030808 |
| scholar | rs5030808 |
| rs5030808 | |
| pharmgkb | rs5030808 |
| gwascentral | rs5030808 |
| openSNP | rs5030808 |
| 23andMe | rs5030808 |
| SNPshot | rs5030808 |
| SNPdbe | rs5030808 |
| MSV3d | rs5030808 |
| GWAS Ctlg | rs5030808 |
| Max Magnitude | 7 |
aka c.277G>T (p.Gly93Cys or G93C), as well as c.277G>C (p.Gly93Arg or G93R), and also c.277G>A (p.Gly93Ser or G93S), all of which are considered pathogenic
23andMe name for c.277G>C: i3003387
| ClinVar | |
|---|---|
| Risk | rs5030808(A;A) rs5030808(C;C) rs5030808(T;T) |
| Alt | rs5030808(A;A) rs5030808(C;C) rs5030808(T;T) |
| Reference | Rs5030808(G;G) |
| Significance | Pathogenic |
| Disease | Pheochromocytoma Von Hippel-Lindau syndrome |
| Variation | info |
| Gene | VHL |
| CLNDBN | Pheochromocytoma Von Hippel-Lindau syndrome |
| Reversed | 0 |
| HGVS | NC_000003.11:g.10183808G>A; NC_000003.11:g.10183808G>C; NC_000003.11:g.10183808G>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000002325.3, RCV000208813.1, RCV000208861.1, RCV000208845.1, |
