rs869025643
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;C) | 7 | Von Hippel-Lindau syndrome mutation |
Make rs869025643(C;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 3 |
Position | 10146547 |
Gene | VHL |
is a | snp |
is | mentioned by |
dbSNP | rs869025643 |
dbSNP (classic) | rs869025643 |
ClinGen | rs869025643 |
ebi | rs869025643 |
HLI | rs869025643 |
Exac | rs869025643 |
Gnomad | rs869025643 |
Varsome | rs869025643 |
LitVar | rs869025643 |
Map | rs869025643 |
PheGenI | rs869025643 |
Biobank | rs869025643 |
1000 genomes | rs869025643 |
hgdp | rs869025643 |
ensembl | rs869025643 |
geneview | rs869025643 |
scholar | rs869025643 |
rs869025643 | |
pharmgkb | rs869025643 |
gwascentral | rs869025643 |
openSNP | rs869025643 |
23andMe | rs869025643 |
SNPshot | rs869025643 |
SNPdbe | rs869025643 |
MSV3d | rs869025643 |
GWAS Ctlg | rs869025643 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | rs869025643(C;C) |
Alt | rs869025643(C;C) |
Reference | Rs869025643(A;A) |
Significance | Pathogenic |
Disease | Von Hippel-Lindau syndrome |
Variation | info |
Gene | VHL |
CLNDBN | Von Hippel-Lindau syndrome |
Reversed | 0 |
HGVS | NC_000003.11:g.10188231A>C |
CLNSRC | |
CLNACC | RCV000208860.1, |