rs727504215
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| (G;T) | 7 | Von Hippel-Lindau syndrome mutation |
| Make rs727504215(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 3 |
| Position | 10146524 |
| Gene | VHL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs727504215 |
| dbSNP (classic) | rs727504215 |
| ClinGen | rs727504215 |
| ebi | rs727504215 |
| HLI | rs727504215 |
| Exac | rs727504215 |
| Gnomad | rs727504215 |
| Varsome | rs727504215 |
| LitVar | rs727504215 |
| Map | rs727504215 |
| PheGenI | rs727504215 |
| Biobank | rs727504215 |
| 1000 genomes | rs727504215 |
| hgdp | rs727504215 |
| ensembl | rs727504215 |
| geneview | rs727504215 |
| scholar | rs727504215 |
| rs727504215 | |
| pharmgkb | rs727504215 |
| gwascentral | rs727504215 |
| openSNP | rs727504215 |
| 23andMe | rs727504215 |
| SNPshot | rs727504215 |
| SNPdbe | rs727504215 |
| MSV3d | rs727504215 |
| GWAS Ctlg | rs727504215 |
| Max Magnitude | 7 |
| ClinVar | |
|---|---|
| Risk | rs727504215(T;T) |
| Alt | rs727504215(T;T) |
| Reference | Rs727504215(G;G) |
| Significance | Pathogenic |
| Disease | Von Hippel-Lindau syndrome |
| Variation | info |
| Gene | VHL |
| CLNDBN | Von Hippel-Lindau syndrome |
| Reversed | 0 |
| HGVS | NC_000003.11:g.10188208G>T |
| CLNSRC | HGMD UniProtKB (protein) |
| CLNACC | RCV000154124.4, |
