rs5030812
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| (A;C) | 7 | Von Hippel-Lindau syndrome mutation |
| Make rs5030812(A;G) |
| Make rs5030812(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 10146517 |
| Gene | VHL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs5030812 |
| dbSNP (classic) | rs5030812 |
| ClinGen | rs5030812 |
| ebi | rs5030812 |
| HLI | rs5030812 |
| Exac | rs5030812 |
| Gnomad | rs5030812 |
| Varsome | rs5030812 |
| LitVar | rs5030812 |
| Map | rs5030812 |
| PheGenI | rs5030812 |
| Biobank | rs5030812 |
| 1000 genomes | rs5030812 |
| hgdp | rs5030812 |
| ensembl | rs5030812 |
| geneview | rs5030812 |
| scholar | rs5030812 |
| rs5030812 | |
| pharmgkb | rs5030812 |
| gwascentral | rs5030812 |
| openSNP | rs5030812 |
| 23andMe | rs5030812 |
| SNPshot | rs5030812 |
| SNPdbe | rs5030812 |
| MSV3d | rs5030812 |
| GWAS Ctlg | rs5030812 |
| Max Magnitude | 7 |
[PMID 18836774] Computational detection of deleterious SNPs and their effect on sequence and structural level of the VHL gene
