rs281860296
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;T) | 7 | Von Hippel-Lindau syndrome mutation |
Make rs281860296(A;G) |
Make rs281860296(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 3 |
Position | 10149909 |
Gene | VHL |
is a | snp |
is | mentioned by |
dbSNP | rs281860296 |
dbSNP (classic) | rs281860296 |
ClinGen | rs281860296 |
ebi | rs281860296 |
HLI | rs281860296 |
Exac | rs281860296 |
Gnomad | rs281860296 |
Varsome | rs281860296 |
LitVar | rs281860296 |
Map | rs281860296 |
PheGenI | rs281860296 |
Biobank | rs281860296 |
1000 genomes | rs281860296 |
hgdp | rs281860296 |
ensembl | rs281860296 |
geneview | rs281860296 |
scholar | rs281860296 |
rs281860296 | |
pharmgkb | rs281860296 |
gwascentral | rs281860296 |
openSNP | rs281860296 |
23andMe | rs281860296 |
SNPshot | rs281860296 |
SNPdbe | rs281860296 |
MSV3d | rs281860296 |
GWAS Ctlg | rs281860296 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | rs281860296(G;G) rs281860296(T;T) |
Alt | rs281860296(G;G) rs281860296(T;T) |
Reference | Rs281860296(A;A) |
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.10191593A>G; NC_000003.11:g.10191593A>T |
CLNSRC | |
CLNACC | RCV000476155.1, RCV000177084.2, |