rs397516443
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;T) | 7 | Von Hippel-Lindau syndrome mutation |
| (T;T) | 0 | common in clinvar |
| Make rs397516443(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 10146638 |
| Gene | VHL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397516443 |
| dbSNP (classic) | rs397516443 |
| ClinGen | rs397516443 |
| ebi | rs397516443 |
| HLI | rs397516443 |
| Exac | rs397516443 |
| Gnomad | rs397516443 |
| Varsome | rs397516443 |
| LitVar | rs397516443 |
| Map | rs397516443 |
| PheGenI | rs397516443 |
| Biobank | rs397516443 |
| 1000 genomes | rs397516443 |
| hgdp | rs397516443 |
| ensembl | rs397516443 |
| geneview | rs397516443 |
| scholar | rs397516443 |
| rs397516443 | |
| pharmgkb | rs397516443 |
| gwascentral | rs397516443 |
| openSNP | rs397516443 |
| 23andMe | rs397516443 |
| SNPshot | rs397516443 |
| SNPdbe | rs397516443 |
| MSV3d | rs397516443 |
| GWAS Ctlg | rs397516443 |
| Max Magnitude | 7 |
same as rs5030814 and as of Oct 2018 merged into it in dbSNP
| ClinVar | |
|---|---|
| Risk | rs397516443(G;G) |
| Alt | rs397516443(G;G) |
| Reference | Rs397516443(T;T) |
| Significance | Probable-Pathogenic |
| Disease | Von Hippel-Lindau syndrome |
| Variation | info |
| Gene | VHL |
| CLNDBN | Von Hippel-Lindau syndrome |
| Reversed | 0 |
| HGVS | NC_000003.11:g.10188322T>G |
| CLNSRC | ClinVar |
| CLNACC | RCV000036545.2, |
