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rs869025666

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;AAGA) 7 Von Hippel-Lindau Syndrome mutation
(-;AGAA) 7 Von Hippel-Lindau syndrome mutation
Make rs869025666(AAGA;AAGA)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position10149913
GeneVHL
is asnp
is mentioned by
dbSNPrs869025666
dbSNP (classic)rs869025666
ClinGenrs869025666
ebirs869025666
HLIrs869025666
Exacrs869025666
Gnomadrs869025666
Varsomers869025666
LitVarrs869025666
Maprs869025666
PheGenIrs869025666
Biobankrs869025666
1000 genomesrs869025666
hgdprs869025666
ensemblrs869025666
geneviewrs869025666
scholarrs869025666
googlers869025666
pharmgkbrs869025666
gwascentralrs869025666
openSNPrs869025666
23andMers869025666
SNPshotrs869025666
SNPdbers869025666
MSV3drs869025666
GWAS Ctlgrs869025666
Max Magnitude7
ClinVar
Risk rs869025666(AGAA;AGAA)
Alt rs869025666(AGAA;AGAA)
Reference Rs869025666(-;-)
Significance Probable-Pathogenic
Disease Von Hippel-Lindau syndrome
Variation info
Gene VHL
CLNDBN Von Hippel-Lindau syndrome
Reversed 0
HGVS NC_000003.11:g.10191594_10191597dupAAGA
CLNSRC
CLNACC RCV000208841.1,