rs765978945
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;G) | 7 | Von Hippel-Lindau syndrome mutation |
Make rs765978945(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 3 |
Position | 10142180 |
Gene | VHL |
is a | snp |
is | mentioned by |
dbSNP | rs765978945 |
dbSNP (classic) | rs765978945 |
ClinGen | rs765978945 |
ebi | rs765978945 |
HLI | rs765978945 |
Exac | rs765978945 |
Gnomad | rs765978945 |
Varsome | rs765978945 |
LitVar | rs765978945 |
Map | rs765978945 |
PheGenI | rs765978945 |
Biobank | rs765978945 |
1000 genomes | rs765978945 |
hgdp | rs765978945 |
ensembl | rs765978945 |
geneview | rs765978945 |
scholar | rs765978945 |
rs765978945 | |
pharmgkb | rs765978945 |
gwascentral | rs765978945 |
openSNP | rs765978945 |
23andMe | rs765978945 |
SNPshot | rs765978945 |
SNPdbe | rs765978945 |
MSV3d | rs765978945 |
GWAS Ctlg | rs765978945 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | rs765978945(G;G) rs765978945(T;T) |
Alt | rs765978945(G;G) rs765978945(T;T) |
Reference | Rs765978945(C;C) |
Significance | Probable-Pathogenic |
Disease | Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Erythrocytosis |
Variation | info |
Gene | VHL |
CLNDBN | Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Erythrocytosis, familial, 2 |
Reversed | 0 |
HGVS | NC_000003.11:g.10183864C>G; NC_000003.11:g.10183864C>T |
CLNSRC | |
CLNACC | RCV000208866.1, RCV000492675.1, RCV000465533.1, |