rs281860296
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;T) | 7 | Von Hippel-Lindau syndrome mutation |
| Make rs281860296(A;G) |
| Make rs281860296(G;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 3 |
| Position | 10149909 |
| Gene | VHL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs281860296 |
| dbSNP (classic) | rs281860296 |
| ClinGen | rs281860296 |
| ebi | rs281860296 |
| HLI | rs281860296 |
| Exac | rs281860296 |
| Gnomad | rs281860296 |
| Varsome | rs281860296 |
| LitVar | rs281860296 |
| Map | rs281860296 |
| PheGenI | rs281860296 |
| Biobank | rs281860296 |
| 1000 genomes | rs281860296 |
| hgdp | rs281860296 |
| ensembl | rs281860296 |
| geneview | rs281860296 |
| scholar | rs281860296 |
| rs281860296 | |
| pharmgkb | rs281860296 |
| gwascentral | rs281860296 |
| openSNP | rs281860296 |
| 23andMe | rs281860296 |
| SNPshot | rs281860296 |
| SNPdbe | rs281860296 |
| MSV3d | rs281860296 |
| GWAS Ctlg | rs281860296 |
| Max Magnitude | 7 |
| ClinVar | |
|---|---|
| Risk | rs281860296(G;G) rs281860296(T;T) |
| Alt | rs281860296(G;G) rs281860296(T;T) |
| Reference | Rs281860296(A;A) |
| Significance | Pathogenic |
| Disease | Erythrocytosis Von Hippel-Lindau syndrome |
| Variation | info |
| Gene | VHL |
| CLNDBN | Erythrocytosis, familial, 2 Von Hippel-Lindau syndrome |
| Reversed | 0 |
| HGVS | NC_000003.11:g.10191593A>G; NC_000003.11:g.10191593A>T |
| CLNSRC | |
| CLNACC | RCV000476155.1, RCV000177084.2, |
