rs267607170
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;G) | 7 | Von Hippel-Lindau syndrome mutation |
Make rs267607170(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 10149814 |
Gene | VHL |
is a | snp |
is | mentioned by |
dbSNP | rs267607170 |
dbSNP (classic) | rs267607170 |
ClinGen | rs267607170 |
ebi | rs267607170 |
HLI | rs267607170 |
Exac | rs267607170 |
Gnomad | rs267607170 |
Varsome | rs267607170 |
LitVar | rs267607170 |
Map | rs267607170 |
PheGenI | rs267607170 |
Biobank | rs267607170 |
1000 genomes | rs267607170 |
hgdp | rs267607170 |
ensembl | rs267607170 |
geneview | rs267607170 |
scholar | rs267607170 |
rs267607170 | |
pharmgkb | rs267607170 |
gwascentral | rs267607170 |
openSNP | rs267607170 |
23andMe | rs267607170 |
SNPshot | rs267607170 |
SNPdbe | rs267607170 |
MSV3d | rs267607170 |
GWAS Ctlg | rs267607170 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | rs267607170(G;G) |
Alt | rs267607170(G;G) |
Reference | Rs267607170(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.10191498A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000002326.3, |