Have questions? Visit https://www.reddit.com/r/SNPedia

rs104893825

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 7 Von Hippel-Lindau syndrome mutation
Make rs104893825(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position10149819
GeneVHL
is asnp
is mentioned by
dbSNPrs104893825
dbSNP (classic)rs104893825
ClinGenrs104893825
ebirs104893825
HLIrs104893825
Exacrs104893825
Gnomadrs104893825
Varsomers104893825
LitVarrs104893825
Maprs104893825
PheGenIrs104893825
Biobankrs104893825
1000 genomesrs104893825
hgdprs104893825
ensemblrs104893825
geneviewrs104893825
scholarrs104893825
googlers104893825
pharmgkbrs104893825
gwascentralrs104893825
openSNPrs104893825
23andMers104893825
SNPshotrs104893825
SNPdbers104893825
MSV3drs104893825
GWAS Ctlgrs104893825
Max Magnitude7

aka c.496G>T (p.Val166Phe or V166F)

23andMe name: i5006373

OMIM608537
Desc
Variant0013
Relatedalso
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,