rs5030832
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;G) | 7 | Von Hippel-Lindau syndrome mutation |
Make rs5030832(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 3 |
Position | 10146535 |
Gene | VHL |
is a | snp |
is | mentioned by |
dbSNP | rs5030832 |
dbSNP (classic) | rs5030832 |
ClinGen | rs5030832 |
ebi | rs5030832 |
HLI | rs5030832 |
Exac | rs5030832 |
Gnomad | rs5030832 |
Varsome | rs5030832 |
LitVar | rs5030832 |
Map | rs5030832 |
PheGenI | rs5030832 |
Biobank | rs5030832 |
1000 genomes | rs5030832 |
hgdp | rs5030832 |
ensembl | rs5030832 |
geneview | rs5030832 |
scholar | rs5030832 |
rs5030832 | |
pharmgkb | rs5030832 |
gwascentral | rs5030832 |
openSNP | rs5030832 |
23andMe | rs5030832 |
SNPshot | rs5030832 |
SNPdbe | rs5030832 |
MSV3d | rs5030832 |
GWAS Ctlg | rs5030832 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | rs5030832(G;G) |
Alt | rs5030832(G;G) |
Reference | Rs5030832(A;A) |
Significance | Pathogenic |
Disease | Von Hippel-Lindau syndrome |
Variation | info |
Gene | VHL |
CLNDBN | Von Hippel-Lindau syndrome |
Reversed | 0 |
HGVS | NC_000003.11:g.10188219A>G |
CLNSRC | |
CLNACC | RCV000208830.1, |