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rs869025631

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 7 Von Hippel-Lindau syndrome mutation
(G;G) 0 common in clinvar
Make rs869025631(G;T)
Make rs869025631(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position10142179
GeneVHL
is asnp
is mentioned by
dbSNPrs869025631
dbSNP (classic)rs869025631
ClinGenrs869025631
ebirs869025631
HLIrs869025631
Exacrs869025631
Gnomadrs869025631
Varsomers869025631
LitVarrs869025631
Maprs869025631
PheGenIrs869025631
Biobankrs869025631
1000 genomesrs869025631
hgdprs869025631
ensemblrs869025631
geneviewrs869025631
scholarrs869025631
googlers869025631
pharmgkbrs869025631
gwascentralrs869025631
openSNPrs869025631
23andMers869025631
SNPshotrs869025631
SNPdbers869025631
MSV3drs869025631
GWAS Ctlgrs869025631
Max Magnitude7
ClinVar
Risk rs869025631(A;A) rs869025631(T;T)
Alt rs869025631(A;A) rs869025631(T;T)
Reference Rs869025631(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.10183863G>A; NC_000003.11:g.10183863G>T
CLNSRC
CLNACC RCV000208834.1, RCV000492721.1, RCV000208794.1,