rs869025662
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;C) | 7 | Von Hippel-Lindau syndrome mutation |
(C;C) | 0 | common in clinvar |
Make rs869025662(A;A) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 3 |
Position | 10149809 |
Gene | VHL |
is a | snp |
is | mentioned by |
dbSNP | rs869025662 |
dbSNP (classic) | rs869025662 |
ClinGen | rs869025662 |
ebi | rs869025662 |
HLI | rs869025662 |
Exac | rs869025662 |
Gnomad | rs869025662 |
Varsome | rs869025662 |
LitVar | rs869025662 |
Map | rs869025662 |
PheGenI | rs869025662 |
Biobank | rs869025662 |
1000 genomes | rs869025662 |
hgdp | rs869025662 |
ensembl | rs869025662 |
geneview | rs869025662 |
scholar | rs869025662 |
rs869025662 | |
pharmgkb | rs869025662 |
gwascentral | rs869025662 |
openSNP | rs869025662 |
23andMe | rs869025662 |
SNPshot | rs869025662 |
SNPdbe | rs869025662 |
MSV3d | rs869025662 |
GWAS Ctlg | rs869025662 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | rs869025662(A;A) rs869025662(G;G) |
Alt | rs869025662(A;A) rs869025662(G;G) |
Reference | Rs869025662(C;C) |
Significance | Pathogenic |
Disease | Von Hippel-Lindau syndrome Erythrocytosis |
Variation | info |
Gene | VHL |
CLNDBN | Von Hippel-Lindau syndrome Erythrocytosis, familial, 2 |
Reversed | 0 |
HGVS | NC_000003.11:g.10191493C>A; NC_000003.11:g.10191493C>G |
CLNSRC | |
CLNACC | RCV000208851.1, RCV000208792.1, RCV000226031.1, |