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rs869025643

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 7 Von Hippel-Lindau syndrome mutation
Make rs869025643(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position10146547
GeneVHL
is asnp
is mentioned by
dbSNPrs869025643
dbSNP (classic)rs869025643
ClinGenrs869025643
ebirs869025643
HLIrs869025643
Exacrs869025643
Gnomadrs869025643
Varsomers869025643
LitVarrs869025643
Maprs869025643
PheGenIrs869025643
Biobankrs869025643
1000 genomesrs869025643
hgdprs869025643
ensemblrs869025643
geneviewrs869025643
scholarrs869025643
googlers869025643
pharmgkbrs869025643
gwascentralrs869025643
openSNPrs869025643
23andMers869025643
SNPshotrs869025643
SNPdbers869025643
MSV3drs869025643
GWAS Ctlgrs869025643
Max Magnitude7
ClinVar
Risk rs869025643(C;C)
Alt rs869025643(C;C)
Reference Rs869025643(A;A)
Significance Pathogenic
Disease Von Hippel-Lindau syndrome
Variation info
Gene VHL
CLNDBN Von Hippel-Lindau syndrome
Reversed 0
HGVS NC_000003.11:g.10188231A>C
CLNSRC
CLNACC RCV000208860.1,