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rs1060503552

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TT;TT) 0 common in clinvar
Make rs1060503552(-;-)
Make rs1060503552(-;TT)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position10142073
GeneVHL
is asnp
is mentioned by
dbSNPrs1060503552
dbSNP (old)rs1060503552
ClinGenrs1060503552
ebirs1060503552
HLIrs1060503552
Exacrs1060503552
Gnomadrs1060503552
Varsomers1060503552
LitVarrs1060503552
Maprs1060503552
PheGenIrs1060503552
Biobankrs1060503552
1000 genomesrs1060503552
hgdprs1060503552
ensemblrs1060503552
gopubmedrs1060503552
geneviewrs1060503552
scholarrs1060503552
googlers1060503552
pharmgkbrs1060503552
gwascentralrs1060503552
openSNPrs1060503552
23andMers1060503552
23andMe allrs1060503552
SNPshotrs1060503552
SNPdbers1060503552
MSV3drs1060503552
GWAS Ctlgrs1060503552
Max Magnitude0
ClinVar
Risk rs1060503552(-;-)
Alt rs1060503552(-;-)
Reference Rs1060503552(TT;TT)
Significance Pathogenic
Disease Erythrocytosis Von Hippel-Lindau syndrome
Variation info
Gene VHL
CLNDBN Erythrocytosis, familial, 2 Von Hippel-Lindau syndrome
Reversed 0
HGVS NC_000003.11:g.10183757_10183758delTT
CLNSRC
CLNACC RCV000462489.1,