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rs373068386

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs373068386(A;A)
Make rs373068386(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position10142001
GeneVHL
is asnp
is mentioned by
dbSNPrs373068386
dbSNP (classic)rs373068386
ClinGenrs373068386
ebirs373068386
HLIrs373068386
Exacrs373068386
Gnomadrs373068386
Varsomers373068386
LitVarrs373068386
Maprs373068386
PheGenIrs373068386
Biobankrs373068386
1000 genomesrs373068386
hgdprs373068386
ensemblrs373068386
geneviewrs373068386
scholarrs373068386
googlers373068386
pharmgkbrs373068386
gwascentralrs373068386
openSNPrs373068386
23andMers373068386
SNPshotrs373068386
SNPdbers373068386
MSV3drs373068386
GWAS Ctlgrs373068386
Max Magnitude0
ClinVar
Risk rs373068386(A;A) rs373068386(T;T)
Alt rs373068386(A;A) rs373068386(T;T)
Reference Rs373068386(G;G)
Significance Pathogenic
Disease Von Hippel-Lindau syndrome Erythrocytosis not specified
Variation info
Gene VHL
CLNDBN Von Hippel-Lindau syndrome Erythrocytosis, familial, 2 not specified
Reversed 0
HGVS NC_000003.11:g.10183685G>A; NC_000003.11:g.10183685G>T
CLNSRC UniProtKB (protein)
CLNACC RCV000148923.1, RCV000227809.2, RCV000236769.1, RCV000161090.3,