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, | 
