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rs869025662

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;C) 7 Von Hippel-Lindau syndrome mutation
(C;C) 0 common in clinvar


Make rs869025662(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position10149809
GeneVHL
is asnp
is mentioned by
dbSNPrs869025662
dbSNP (classic)rs869025662
ClinGenrs869025662
ebirs869025662
HLIrs869025662
Exacrs869025662
Gnomadrs869025662
Varsomers869025662
LitVarrs869025662
Maprs869025662
PheGenIrs869025662
Biobankrs869025662
1000 genomesrs869025662
hgdprs869025662
ensemblrs869025662
geneviewrs869025662
scholarrs869025662
googlers869025662
pharmgkbrs869025662
gwascentralrs869025662
openSNPrs869025662
23andMers869025662
SNPshotrs869025662
SNPdbers869025662
MSV3drs869025662
GWAS Ctlgrs869025662
Max Magnitude7
ClinVar
Risk rs869025662(A;A) rs869025662(G;G)
Alt rs869025662(A;A) rs869025662(G;G)
Reference Rs869025662(C;C)
Significance Pathogenic
Disease Von Hippel-Lindau syndrome Erythrocytosis
Variation info
Gene VHL
CLNDBN Von Hippel-Lindau syndrome Erythrocytosis, familial, 2
Reversed 0
HGVS NC_000003.11:g.10191493C>A; NC_000003.11:g.10191493C>G
CLNSRC
CLNACC RCV000208851.1, RCV000208792.1, RCV000226031.1,