rs1064793878
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 7 | Von Hippel-Lindau syndrome mutation |
(T;T) | 0 | common in clinvar |
Chromosome | 3 |
Position | 10149874 |
Gene | VHL |
is a | snp |
is | mentioned by |
dbSNP | rs1064793878 |
dbSNP (classic) | rs1064793878 |
ClinGen | rs1064793878 |
ebi | rs1064793878 |
HLI | rs1064793878 |
Exac | rs1064793878 |
Gnomad | rs1064793878 |
Varsome | rs1064793878 |
LitVar | rs1064793878 |
Map | rs1064793878 |
PheGenI | rs1064793878 |
Biobank | rs1064793878 |
1000 genomes | rs1064793878 |
hgdp | rs1064793878 |
ensembl | rs1064793878 |
geneview | rs1064793878 |
scholar | rs1064793878 |
rs1064793878 | |
pharmgkb | rs1064793878 |
gwascentral | rs1064793878 |
openSNP | rs1064793878 |
23andMe | rs1064793878 |
SNPshot | rs1064793878 |
SNPdbe | rs1064793878 |
MSV3d | rs1064793878 |
GWAS Ctlg | rs1064793878 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | rs1064793878(C;C) |
Alt | rs1064793878(C;C) |
Reference | Rs1064793878(T;T) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | VHL |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000003.11:g.10191558T>C |
CLNSRC | |
CLNACC | RCV000484822.1, |