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rs869025619

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 7 Von Hippel-Lindau syndrome mutation
Make rs869025619(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position10142064
GeneVHL
is asnp
is mentioned by
dbSNPrs869025619
dbSNP (classic)rs869025619
ClinGenrs869025619
ebirs869025619
HLIrs869025619
Exacrs869025619
Gnomadrs869025619
Varsomers869025619
LitVarrs869025619
Maprs869025619
PheGenIrs869025619
Biobankrs869025619
1000 genomesrs869025619
hgdprs869025619
ensemblrs869025619
geneviewrs869025619
scholarrs869025619
googlers869025619
pharmgkbrs869025619
gwascentralrs869025619
openSNPrs869025619
23andMers869025619
SNPshotrs869025619
SNPdbers869025619
MSV3drs869025619
GWAS Ctlgrs869025619
Max Magnitude7
ClinVar
Risk rs869025619(G;G) rs869025619(T;T)
Alt rs869025619(G;G) rs869025619(T;T)
Reference Rs869025619(C;C)
Significance Pathogenic
Disease Von Hippel-Lindau syndrome
Variation info
Gene VHL
CLNDBN Von Hippel-Lindau syndrome
Reversed 0
HGVS NC_000003.11:g.10183748C>T
CLNSRC
CLNACC RCV000208804.1,