rs794726890
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;G) | 7 | Von Hippel-Lindau syndrome mutation |
(G;G) | 0 | common in clinvar |
(G;T) | 7 | Von Hippel-Lindau syndrome mutation |
Make rs794726890(C;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 3 |
Position | 10142092 |
Gene | VHL |
is a | snp |
is | mentioned by |
dbSNP | rs794726890 |
dbSNP (classic) | rs794726890 |
ClinGen | rs794726890 |
ebi | rs794726890 |
HLI | rs794726890 |
Exac | rs794726890 |
Gnomad | rs794726890 |
Varsome | rs794726890 |
LitVar | rs794726890 |
Map | rs794726890 |
PheGenI | rs794726890 |
Biobank | rs794726890 |
1000 genomes | rs794726890 |
hgdp | rs794726890 |
ensembl | rs794726890 |
geneview | rs794726890 |
scholar | rs794726890 |
rs794726890 | |
pharmgkb | rs794726890 |
gwascentral | rs794726890 |
openSNP | rs794726890 |
23andMe | rs794726890 |
SNPshot | rs794726890 |
SNPdbe | rs794726890 |
MSV3d | rs794726890 |
GWAS Ctlg | rs794726890 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | rs794726890(C;C) |
Alt | rs794726890(C;C) |
Reference | Rs794726890(G;G) |
Significance | Pathogenic |
Disease | Von Hippel-Lindau syndrome |
Variation | info |
Gene | VHL |
CLNDBN | Von Hippel-Lindau syndrome |
Reversed | 0 |
HGVS | NC_000003.11:g.10183776G>C |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000173161.1, |