rs794729660
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;ATC) | 7 | Von Hippel-Lindau syndrome mutation |
(TCA;TCA) | 0 | common in clinvar |
Make rs794729660(-;-) |
Make rs794729660(ATC;ATC) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 3 |
Position | 10142070 |
Gene | VHL |
is a | snp |
is | mentioned by |
dbSNP | rs794729660 |
dbSNP (classic) | rs794729660 |
ClinGen | rs794729660 |
ebi | rs794729660 |
HLI | rs794729660 |
Exac | rs794729660 |
Gnomad | rs794729660 |
Varsome | rs794729660 |
LitVar | rs794729660 |
Map | rs794729660 |
PheGenI | rs794729660 |
Biobank | rs794729660 |
1000 genomes | rs794729660 |
hgdp | rs794729660 |
ensembl | rs794729660 |
geneview | rs794729660 |
scholar | rs794729660 |
rs794729660 | |
pharmgkb | rs794729660 |
gwascentral | rs794729660 |
openSNP | rs794729660 |
23andMe | rs794729660 |
SNPshot | rs794729660 |
SNPdbe | rs794729660 |
MSV3d | rs794729660 |
GWAS Ctlg | rs794729660 |
Max Magnitude | 7 |
ClinVar | |
---|---|
Risk | rs794729660(-;-) |
Alt | rs794729660(-;-) |
Reference | Rs794729660(TCA;TCA) |
Significance | Pathogenic |
Disease | Von Hippel-Lindau syndrome |
Variation | info |
Gene | VHL |
CLNDBN | Von Hippel-Lindau syndrome |
Reversed | 0 |
HGVS | NC_000003.11:g.10183754_10183756delATC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000002298.3, |