rs373068386
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs373068386(A;A) |
| Make rs373068386(A;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 3 |
| Position | 10142001 |
| Gene | VHL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs373068386 |
| dbSNP (classic) | rs373068386 |
| ClinGen | rs373068386 |
| ebi | rs373068386 |
| HLI | rs373068386 |
| Exac | rs373068386 |
| Gnomad | rs373068386 |
| Varsome | rs373068386 |
| LitVar | rs373068386 |
| Map | rs373068386 |
| PheGenI | rs373068386 |
| Biobank | rs373068386 |
| 1000 genomes | rs373068386 |
| hgdp | rs373068386 |
| ensembl | rs373068386 |
| geneview | rs373068386 |
| scholar | rs373068386 |
| rs373068386 | |
| pharmgkb | rs373068386 |
| gwascentral | rs373068386 |
| openSNP | rs373068386 |
| 23andMe | rs373068386 |
| SNPshot | rs373068386 |
| SNPdbe | rs373068386 |
| MSV3d | rs373068386 |
| GWAS Ctlg | rs373068386 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs373068386(A;A) rs373068386(T;T) |
| Alt | rs373068386(A;A) rs373068386(T;T) |
| Reference | Rs373068386(G;G) |
| Significance | Pathogenic |
| Disease | Von Hippel-Lindau syndrome Erythrocytosis not specified |
| Variation | info |
| Gene | VHL |
| CLNDBN | Von Hippel-Lindau syndrome Erythrocytosis, familial, 2 not specified |
| Reversed | 0 |
| HGVS | NC_000003.11:g.10183685G>A; NC_000003.11:g.10183685G>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000148923.1, RCV000227809.2, RCV000236769.1, RCV000161090.3, |
