rs864622545
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;C) | 7 | Von Hippel-Lindau syndrome mutation |
(C;C) | 0 | common in clinvar |
Make rs864622545(-;-) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 3 |
Position | 10142105 |
Gene | VHL |
is a | snp |
is | mentioned by |
dbSNP | rs864622545 |
dbSNP (classic) | rs864622545 |
ClinGen | rs864622545 |
ebi | rs864622545 |
HLI | rs864622545 |
Exac | rs864622545 |
Gnomad | rs864622545 |
Varsome | rs864622545 |
LitVar | rs864622545 |
Map | rs864622545 |
PheGenI | rs864622545 |
Biobank | rs864622545 |
1000 genomes | rs864622545 |
hgdp | rs864622545 |
ensembl | rs864622545 |
geneview | rs864622545 |
scholar | rs864622545 |
rs864622545 | |
pharmgkb | rs864622545 |
gwascentral | rs864622545 |
openSNP | rs864622545 |
23andMe | rs864622545 |
SNPshot | rs864622545 |
SNPdbe | rs864622545 |
MSV3d | rs864622545 |
GWAS Ctlg | rs864622545 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | rs864622545(-;-) |
Alt | rs864622545(-;-) |
Reference | Rs864622545(C;C) |
Significance | Pathogenic |
Disease | Erythrocytosis Von Hippel-Lindau syndrome |
Variation | info |
Gene | VHL |
CLNDBN | Erythrocytosis, familial, 2 Von Hippel-Lindau syndrome |
Reversed | 0 |
HGVS | NC_000003.11:g.10183789delC |
CLNSRC | |
CLNACC | RCV000204033.2, |