rs104893829
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs104893829(C;T) |
| Make rs104893829(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 10142088 |
| Gene | VHL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104893829 |
| dbSNP (classic) | rs104893829 |
| ClinGen | rs104893829 |
| ebi | rs104893829 |
| HLI | rs104893829 |
| Exac | rs104893829 |
| Gnomad | rs104893829 |
| Varsome | rs104893829 |
| LitVar | rs104893829 |
| Map | rs104893829 |
| PheGenI | rs104893829 |
| Biobank | rs104893829 |
| 1000 genomes | rs104893829 |
| hgdp | rs104893829 |
| ensembl | rs104893829 |
| geneview | rs104893829 |
| scholar | rs104893829 |
| rs104893829 | |
| pharmgkb | rs104893829 |
| gwascentral | rs104893829 |
| openSNP | rs104893829 |
| 23andMe | rs104893829 |
| SNPshot | rs104893829 |
| SNPdbe | rs104893829 |
| MSV3d | rs104893829 |
| GWAS Ctlg | rs104893829 |
| Merged from | Rs28940299, Rs5030806 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs104893829(T;T) |
| Alt | rs104893829(T;T) |
| Reference | Rs104893829(C;C) |
| Significance | Other |
| Disease | Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome not specified Erythrocytosis Neoplasm |
| Variation | info |
| Gene | VHL |
| CLNDBN | Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome not specified Erythrocytosis, familial, 2 Neoplasm |
| Reversed | 0 |
| HGVS | NC_000003.11:g.10183772C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000002321.8, RCV000115744.6, RCV000213077.3, RCV000225752.2, RCV000418681.1, |
[PMID 982991] [Clinical characteristics of peptic ulcer in metallurgists].
[PMID 8956040] Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan.
[PMID 10340905] Trichloroethylene exposure and specific somatic mutations in patients with renal cell carcinoma.
[PMID 10761708
] Germ-line mutation analysis in patients with von Hippel-Lindau disease in Japan: an extended study of 77 families.
[PMID 11114638] Clinical and genetic analysis of patients with pancreatic neuroendocrine tumors associated with von Hippel-Lindau disease.
[PMID 17997830] Trichloroethylene exposure and somatic mutations of the VHL gene in patients with Renal Cell Carcinoma.
