rs104893825
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(G;T) | 7 | Von Hippel-Lindau syndrome mutation |
Make rs104893825(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 10149819 |
Gene | VHL |
is a | snp |
is | mentioned by |
dbSNP | rs104893825 |
dbSNP (classic) | rs104893825 |
ClinGen | rs104893825 |
ebi | rs104893825 |
HLI | rs104893825 |
Exac | rs104893825 |
Gnomad | rs104893825 |
Varsome | rs104893825 |
LitVar | rs104893825 |
Map | rs104893825 |
PheGenI | rs104893825 |
Biobank | rs104893825 |
1000 genomes | rs104893825 |
hgdp | rs104893825 |
ensembl | rs104893825 |
geneview | rs104893825 |
scholar | rs104893825 |
rs104893825 | |
pharmgkb | rs104893825 |
gwascentral | rs104893825 |
openSNP | rs104893825 |
23andMe | rs104893825 |
SNPshot | rs104893825 |
SNPdbe | rs104893825 |
MSV3d | rs104893825 |
GWAS Ctlg | rs104893825 |
Max Magnitude | 7 |
aka c.496G>T (p.Val166Phe or V166F)
23andMe name: i5006373
ClinVar | |
---|---|
Risk | rs104893825(T;T) |
Alt | rs104893825(T;T) |
Reference | Rs104893825(G;G) |
Significance | Pathogenic |
Disease | Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | VHL |
CLNDBN | Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000003.11:g.10191503G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000002310.2, RCV000220823.2, |