rs869025652
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;GC) | 7 | Von Hippel-Lindau syndrome mutation |
| (GC;GC) | 0 | common in clinvar |
| Make rs869025652(-;-) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 3 |
| Position | 10146608 |
| Gene | VHL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs869025652 |
| dbSNP (classic) | rs869025652 |
| ClinGen | rs869025652 |
| ebi | rs869025652 |
| HLI | rs869025652 |
| Exac | rs869025652 |
| Gnomad | rs869025652 |
| Varsome | rs869025652 |
| LitVar | rs869025652 |
| Map | rs869025652 |
| PheGenI | rs869025652 |
| Biobank | rs869025652 |
| 1000 genomes | rs869025652 |
| hgdp | rs869025652 |
| ensembl | rs869025652 |
| geneview | rs869025652 |
| scholar | rs869025652 |
| rs869025652 | |
| pharmgkb | rs869025652 |
| gwascentral | rs869025652 |
| openSNP | rs869025652 |
| 23andMe | rs869025652 |
| SNPshot | rs869025652 |
| SNPdbe | rs869025652 |
| MSV3d | rs869025652 |
| GWAS Ctlg | rs869025652 |
| Max Magnitude | 7 |
| ClinVar | |
|---|---|
| Risk | rs869025652(-;-) |
| Alt | rs869025652(-;-) |
| Reference | Rs869025652(GC;GC) |
| Significance | Pathogenic |
| Disease | Von Hippel-Lindau syndrome |
| Variation | info |
| Gene | VHL |
| CLNDBN | Von Hippel-Lindau syndrome |
| Reversed | 0 |
| HGVS | NC_000003.11:g.10188292_10188293delGC |
| CLNSRC | |
| CLNACC | RCV000208807.1, |
