rs373068386
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs373068386(A;A) |
Make rs373068386(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 3 |
Position | 10142001 |
Gene | VHL |
is a | snp |
is | mentioned by |
dbSNP | rs373068386 |
dbSNP (classic) | rs373068386 |
ClinGen | rs373068386 |
ebi | rs373068386 |
HLI | rs373068386 |
Exac | rs373068386 |
Gnomad | rs373068386 |
Varsome | rs373068386 |
LitVar | rs373068386 |
Map | rs373068386 |
PheGenI | rs373068386 |
Biobank | rs373068386 |
1000 genomes | rs373068386 |
hgdp | rs373068386 |
ensembl | rs373068386 |
geneview | rs373068386 |
scholar | rs373068386 |
rs373068386 | |
pharmgkb | rs373068386 |
gwascentral | rs373068386 |
openSNP | rs373068386 |
23andMe | rs373068386 |
SNPshot | rs373068386 |
SNPdbe | rs373068386 |
MSV3d | rs373068386 |
GWAS Ctlg | rs373068386 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs373068386(A;A) rs373068386(T;T) |
Alt | rs373068386(A;A) rs373068386(T;T) |
Reference | Rs373068386(G;G) |
Significance | Pathogenic |
Disease | Von Hippel-Lindau syndrome Erythrocytosis not specified |
Variation | info |
Gene | VHL |
CLNDBN | Von Hippel-Lindau syndrome Erythrocytosis, familial, 2 not specified |
Reversed | 0 |
HGVS | NC_000003.11:g.10183685G>A; NC_000003.11:g.10183685G>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000148923.1, RCV000227809.2, RCV000236769.1, RCV000161090.3, |