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rs869025618

From SNPedia

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


Make rs869025618(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position10142061
GeneVHL
is asnp
is mentioned by
dbSNPrs869025618
dbSNP (classic)rs869025618
ClinGenrs869025618
ebirs869025618
HLIrs869025618
Exacrs869025618
Gnomadrs869025618
Varsomers869025618
LitVarrs869025618
Maprs869025618
PheGenIrs869025618
Biobankrs869025618
1000 genomesrs869025618
hgdprs869025618
ensemblrs869025618
geneviewrs869025618
scholarrs869025618
googlers869025618
pharmgkbrs869025618
gwascentralrs869025618
openSNPrs869025618
23andMers869025618
SNPshotrs869025618
SNPdbers869025618
MSV3drs869025618
GWAS Ctlgrs869025618
Max Magnitude7
ClinVar
Risk rs869025618(C;C)
Alt rs869025618(C;C)
Reference Rs869025618(T;T)
Significance Probable-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.10183745T>C
CLNSRC
CLNACC RCV000208787.1, RCV000492124.1,