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rs869025641

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;A) 7 Von Hippel-Lindau syndrome mutation
Make rs869025641(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position10146525
GeneVHL
is asnp
is mentioned by
dbSNPrs869025641
dbSNP (classic)rs869025641
ClinGenrs869025641
ebirs869025641
HLIrs869025641
Exacrs869025641
Gnomadrs869025641
Varsomers869025641
LitVarrs869025641
Maprs869025641
PheGenIrs869025641
Biobankrs869025641
1000 genomesrs869025641
hgdprs869025641
ensemblrs869025641
geneviewrs869025641
scholarrs869025641
googlers869025641
pharmgkbrs869025641
gwascentralrs869025641
openSNPrs869025641
23andMers869025641
SNPshotrs869025641
SNPdbers869025641
MSV3drs869025641
GWAS Ctlgrs869025641
Max Magnitude7
ClinVar
Risk rs869025641(A;A)
Alt rs869025641(A;A)
Reference Rs869025641(-;-)
Significance Pathogenic
Disease Von Hippel-Lindau syndrome
Variation info
Gene VHL
CLNDBN Von Hippel-Lindau syndrome
Reversed 0
HGVS NC_000003.11:g.10188209_10188210insA
CLNSRC
CLNACC RCV000208858.1,