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rs281860296

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 7 Von Hippel-Lindau syndrome mutation
Make rs281860296(A;G)
Make rs281860296(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position10149909
GeneVHL
is asnp
is mentioned by
dbSNPrs281860296
dbSNP (classic)rs281860296
ClinGenrs281860296
ebirs281860296
HLIrs281860296
Exacrs281860296
Gnomadrs281860296
Varsomers281860296
LitVarrs281860296
Maprs281860296
PheGenIrs281860296
Biobankrs281860296
1000 genomesrs281860296
hgdprs281860296
ensemblrs281860296
geneviewrs281860296
scholarrs281860296
googlers281860296
pharmgkbrs281860296
gwascentralrs281860296
openSNPrs281860296
23andMers281860296
SNPshotrs281860296
SNPdbers281860296
MSV3drs281860296
GWAS Ctlgrs281860296
Max Magnitude7
ClinVar
Risk rs281860296(G;G) rs281860296(T;T)
Alt rs281860296(G;G) rs281860296(T;T)
Reference Rs281860296(A;A)
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.10191593A>G; NC_000003.11:g.10191593A>T
CLNSRC
CLNACC RCV000476155.1, RCV000177084.2,