rs786202787
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;C) | 7 | Von Hippel-Lindau syndrome mutation |
(A;G) | 7 | Von Hippel-Lindau syndrome mutation |
Make rs786202787(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 3 |
Position | 10142085 |
Gene | VHL |
is a | snp |
is | mentioned by |
dbSNP | rs786202787 |
dbSNP (classic) | rs786202787 |
ClinGen | rs786202787 |
ebi | rs786202787 |
HLI | rs786202787 |
Exac | rs786202787 |
Gnomad | rs786202787 |
Varsome | rs786202787 |
LitVar | rs786202787 |
Map | rs786202787 |
PheGenI | rs786202787 |
Biobank | rs786202787 |
1000 genomes | rs786202787 |
hgdp | rs786202787 |
ensembl | rs786202787 |
geneview | rs786202787 |
scholar | rs786202787 |
rs786202787 | |
pharmgkb | rs786202787 |
gwascentral | rs786202787 |
openSNP | rs786202787 |
23andMe | rs786202787 |
SNPshot | rs786202787 |
SNPdbe | rs786202787 |
MSV3d | rs786202787 |
GWAS Ctlg | rs786202787 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | rs786202787(G;G) |
Alt | rs786202787(G;G) |
Reference | Rs786202787(A;A) |
Significance | Probable-Pathogenic |
Disease | Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | VHL |
CLNDBN | Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000003.11:g.10183769A>G |
CLNSRC | |
CLNACC | RCV000165774.2, |