rs104893830
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;G) | 7 | Von Hippel-Lindau syndrome mutation |
| (G;G) | 0 | common in clinvar |
| (G;T) | 7 | Von Hippel-Lindau syndrome mutation |
| Make rs104893830(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 10146561 |
| Gene | VHL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104893830 |
| dbSNP (classic) | rs104893830 |
| ClinGen | rs104893830 |
| ebi | rs104893830 |
| HLI | rs104893830 |
| Exac | rs104893830 |
| Gnomad | rs104893830 |
| Varsome | rs104893830 |
| LitVar | rs104893830 |
| Map | rs104893830 |
| PheGenI | rs104893830 |
| Biobank | rs104893830 |
| 1000 genomes | rs104893830 |
| hgdp | rs104893830 |
| ensembl | rs104893830 |
| geneview | rs104893830 |
| scholar | rs104893830 |
| rs104893830 | |
| pharmgkb | rs104893830 |
| gwascentral | rs104893830 |
| openSNP | rs104893830 |
| 23andMe | rs104893830 |
| SNPshot | rs104893830 |
| SNPdbe | rs104893830 |
| MSV3d | rs104893830 |
| GWAS Ctlg | rs104893830 |
| Max Magnitude | 7 |
| ClinVar | |
|---|---|
| Risk | rs104893830(C;C) |
| Alt | rs104893830(C;C) |
| Reference | Rs104893830(G;G) |
| Significance | Pathogenic |
| Disease | Erythrocytosis Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome |
| Variation | info |
| Gene | VHL |
| CLNDBN | Erythrocytosis, familial, 2 Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome |
| Reversed | 0 |
| HGVS | NC_000003.11:g.10188245G>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000002317.3, RCV000030586.2, RCV000492250.1, |
[PMID 818706] Hepatocellular transplantation for metabolic deficiencies: decrease of plasms bilirubin in Gunn rats.
[PMID 8956040] Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan.
[PMID 11921283] Comprehensive mutational analysis of the VHL gene in sporadic renal cell carcinoma: relationship to clinicopathological parameters.
[PMID 12393546] Mutations in the VHL gene in sporadic apparently congenital polycythemia.
[PMID 15300849] Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions.
[PMID 16210343] Von Hippel-Lindau-dependent polycythemia is endemic on the island of Ischia: identification of a novel cluster.
