rs193922611
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;T) | 7 | Von Hippel-Lindau syndrome mutation |
(T;T) | 0 | common in clinvar |
Make rs193922611(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 10146631 |
Gene | VHL |
is a | snp |
is | mentioned by |
dbSNP | rs193922611 |
dbSNP (classic) | rs193922611 |
ClinGen | rs193922611 |
ebi | rs193922611 |
HLI | rs193922611 |
Exac | rs193922611 |
Gnomad | rs193922611 |
Varsome | rs193922611 |
LitVar | rs193922611 |
Map | rs193922611 |
PheGenI | rs193922611 |
Biobank | rs193922611 |
1000 genomes | rs193922611 |
hgdp | rs193922611 |
ensembl | rs193922611 |
geneview | rs193922611 |
scholar | rs193922611 |
rs193922611 | |
pharmgkb | rs193922611 |
gwascentral | rs193922611 |
openSNP | rs193922611 |
23andMe | rs193922611 |
SNPshot | rs193922611 |
SNPdbe | rs193922611 |
MSV3d | rs193922611 |
GWAS Ctlg | rs193922611 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | rs193922611(A;A) |
Alt | rs193922611(A;A) |
Reference | Rs193922611(T;T) |
Significance | Probable-Pathogenic |
Disease | Von Hippel-Lindau syndrome |
Variation | info |
Gene | VHL |
CLNDBN | Von Hippel-Lindau syndrome |
Reversed | 0 |
HGVS | NC_000003.11:g.10188315T>A |
CLNSRC | ClinVar LabCorp |
CLNACC | RCV000030587.1, |