rs367545984
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| (G;T) | 7 | Von Hippel-Lindau syndrome mutation |
| Make rs367545984(A;A) |
| Make rs367545984(A;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 3 |
| Position | 10149879 |
| Gene | VHL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs367545984 |
| dbSNP (classic) | rs367545984 |
| ClinGen | rs367545984 |
| ebi | rs367545984 |
| HLI | rs367545984 |
| Exac | rs367545984 |
| Gnomad | rs367545984 |
| Varsome | rs367545984 |
| LitVar | rs367545984 |
| Map | rs367545984 |
| PheGenI | rs367545984 |
| Biobank | rs367545984 |
| 1000 genomes | rs367545984 |
| hgdp | rs367545984 |
| ensembl | rs367545984 |
| geneview | rs367545984 |
| scholar | rs367545984 |
| rs367545984 | |
| pharmgkb | rs367545984 |
| gwascentral | rs367545984 |
| openSNP | rs367545984 |
| 23andMe | rs367545984 |
| SNPshot | rs367545984 |
| SNPdbe | rs367545984 |
| MSV3d | rs367545984 |
| GWAS Ctlg | rs367545984 |
| Max Magnitude | 7 |
| ClinVar | |
|---|---|
| Risk | rs367545984(A;A) rs367545984(T;T) |
| Alt | rs367545984(A;A) rs367545984(T;T) |
| Reference | Rs367545984(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Von Hippel-Lindau syndrome not specified not provided |
| Variation | info |
| Gene | VHL |
| CLNDBN | Von Hippel-Lindau syndrome not specified not provided |
| Reversed | 0 |
| HGVS | NC_000003.11:g.10191563G>A; NC_000003.11:g.10191563G>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000148924.1, RCV000235746.1, RCV000432980.1, |
