rs5030823
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;C) | 7 | Von Hippel-Lindau syndrome mutation |
| (C;C) | 0 | common in complete genomics |
| (C;G) | 7 | Von Hippel-Lindau syndrome mutation |
| Make rs5030823(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 10149871 |
| Gene | VHL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs5030823 |
| dbSNP (classic) | rs5030823 |
| ClinGen | rs5030823 |
| ebi | rs5030823 |
| HLI | rs5030823 |
| Exac | rs5030823 |
| Gnomad | rs5030823 |
| Varsome | rs5030823 |
| LitVar | rs5030823 |
| Map | rs5030823 |
| PheGenI | rs5030823 |
| Biobank | rs5030823 |
| 1000 genomes | rs5030823 |
| hgdp | rs5030823 |
| ensembl | rs5030823 |
| geneview | rs5030823 |
| scholar | rs5030823 |
| rs5030823 | |
| pharmgkb | rs5030823 |
| gwascentral | rs5030823 |
| openSNP | rs5030823 |
| 23andMe | rs5030823 |
| SNPshot | rs5030823 |
| SNPdbe | rs5030823 |
| MSV3d | rs5030823 |
| GWAS Ctlg | rs5030823 |
| Max Magnitude | 7 |
aka c.548C>A (p.Ser183Ter or S183X), which is pathogenic; also c.548C>G (p.Ser183Trp or S183W), likely to be pathogenic; and also c.548C>T (p.Ser183Leu or S183L), a variant of uncertain significance
23andMe name for c.548C>A variant: i3003392
| ClinVar | |
|---|---|
| Risk | rs5030823(A;A) rs5030823(G;G) rs5030823(T;T) |
| Alt | rs5030823(A;A) rs5030823(G;G) rs5030823(T;T) |
| Reference | Rs5030823(C;C) |
| Significance | Pathogenic |
| Disease | Renal cell carcinoma Von Hippel-Lindau syndrome Pheochromocytoma Erythrocytosis |
| Variation | info |
| Gene | VHL |
| CLNDBN | Renal cell carcinoma Von Hippel-Lindau syndrome Pheochromocytoma Erythrocytosis, familial, 2 |
| Reversed | 0 |
| HGVS | NC_000003.11:g.10191555C>A; NC_000003.11:g.10191555C>G; NC_000003.11:g.10191555C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000002299.4, RCV000208867.1, RCV000203537.1, RCV000476376.1, |
