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rs143985153

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 7 Von Hippel-Lindau syndrome mutation
Make rs143985153(A;G)
Make rs143985153(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position10142116
GeneVHL
is asnp
is mentioned by
dbSNPrs143985153
dbSNP (classic)rs143985153
ClinGenrs143985153
ebirs143985153
HLIrs143985153
Exacrs143985153
Gnomadrs143985153
Varsomers143985153
LitVarrs143985153
Maprs143985153
PheGenIrs143985153
Biobankrs143985153
1000 genomesrs143985153
hgdprs143985153
ensemblrs143985153
geneviewrs143985153
scholarrs143985153
googlers143985153
pharmgkbrs143985153
gwascentralrs143985153
openSNPrs143985153
23andMers143985153
SNPshotrs143985153
SNPdbers143985153
MSV3drs143985153
GWAS Ctlgrs143985153
Max Magnitude7
ClinVar
Risk rs143985153(G;G) rs143985153(T;T)
Alt rs143985153(G;G) rs143985153(T;T)
Reference Rs143985153(A;A)
Significance Probable-Pathogenic
Disease not provided Von Hippel-Lindau syndrome
Variation info
Gene VHL
CLNDBN not provided Von Hippel-Lindau syndrome
Reversed 0
HGVS NC_000003.11:g.10183800A>G; NC_000003.11:g.10183800A>T
CLNSRC
CLNACC RCV000034799.1, RCV000208809.1,