rs730882037
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;G) | 7 | Von Hippel-Lindau syndrome mutation |
(G;G) | 0 | common in clinvar |
Make rs730882037(-;-) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 3 |
Position | 10142027 |
Gene | VHL |
is a | snp |
is | mentioned by |
dbSNP | rs730882037 |
dbSNP (classic) | rs730882037 |
ClinGen | rs730882037 |
ebi | rs730882037 |
HLI | rs730882037 |
Exac | rs730882037 |
Gnomad | rs730882037 |
Varsome | rs730882037 |
LitVar | rs730882037 |
Map | rs730882037 |
PheGenI | rs730882037 |
Biobank | rs730882037 |
1000 genomes | rs730882037 |
hgdp | rs730882037 |
ensembl | rs730882037 |
geneview | rs730882037 |
scholar | rs730882037 |
rs730882037 | |
pharmgkb | rs730882037 |
gwascentral | rs730882037 |
openSNP | rs730882037 |
23andMe | rs730882037 |
SNPshot | rs730882037 |
SNPdbe | rs730882037 |
MSV3d | rs730882037 |
GWAS Ctlg | rs730882037 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | rs730882037(-;-) |
Alt | rs730882037(-;-) |
Reference | Rs730882037(G;G) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | VHL |
CLNDBN | Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000003.11:g.10183711delG |
CLNSRC | |
CLNACC | RCV000161096.1, |