rs28940298
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs28940298(C;T) |
| Make rs28940298(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 10149921 |
| Gene | VHL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28940298 |
| dbSNP (classic) | rs28940298 |
| ClinGen | rs28940298 |
| ebi | rs28940298 |
| HLI | rs28940298 |
| Exac | rs28940298 |
| Gnomad | rs28940298 |
| Varsome | rs28940298 |
| LitVar | rs28940298 |
| Map | rs28940298 |
| PheGenI | rs28940298 |
| Biobank | rs28940298 |
| 1000 genomes | rs28940298 |
| hgdp | rs28940298 |
| ensembl | rs28940298 |
| geneview | rs28940298 |
| scholar | rs28940298 |
| rs28940298 | |
| pharmgkb | rs28940298 |
| gwascentral | rs28940298 |
| openSNP | rs28940298 |
| 23andMe | rs28940298 |
| SNPshot | rs28940298 |
| SNPdbe | rs28940298 |
| MSV3d | rs28940298 |
| GWAS Ctlg | rs28940298 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs28940298(T;T) |
| Alt | rs28940298(T;T) |
| Reference | Rs28940298(C;C) |
| Significance | Pathogenic |
| Disease | Erythrocytosis not specified Von Hippel-Lindau syndrome not provided |
| Variation | info |
| Gene | VHL |
| CLNDBN | Erythrocytosis, familial, 2 not specified Von Hippel-Lindau syndrome not provided |
| Reversed | 0 |
| HGVS | NC_000003.11:g.10191605C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000002320.6, RCV000122262.2, RCV000148922.4, RCV000161094.4, RCV000456133.1, |
[PMID 18998488] Two hypoxia sensor genes and their association with symptoms of acute mountain sickness in Sherpas.
[PMID 1034090] [3 cases of fenestration of the vertebral artery].
[PMID 7553625] Cellular proteins that bind the von Hippel-Lindau disease gene product: mapping of binding domains and the effect of missense mutations.
[PMID 9137812] Renal cell carcinomas in trichloroethene (TRI) exposed persons are associated with somatic mutations in the von Hippel-Lindau (VHL) tumour suppressor gene.
[PMID 12415268] Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia.
[PMID 14726398] Congenital disorder of oxygen sensing: association of the homozygous Chuvash polycythemia VHL mutation with thrombosis and vascular abnormalities but not tumors.
[PMID 15611513] Role of VHL gene mutation in human cancer.
