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rs869312919

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869312919(A;A)
Make rs869312919(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position81593952
GeneGBE1
is asnp
is mentioned by
dbSNPrs869312919
dbSNP (classic)rs869312919
ClinGenrs869312919
ebirs869312919
HLIrs869312919
Exacrs869312919
Gnomadrs869312919
Varsomers869312919
LitVarrs869312919
Maprs869312919
PheGenIrs869312919
Biobankrs869312919
1000 genomesrs869312919
hgdprs869312919
ensemblrs869312919
geneviewrs869312919
scholarrs869312919
googlers869312919
pharmgkbrs869312919
gwascentralrs869312919
openSNPrs869312919
23andMers869312919
SNPshotrs869312919
SNPdbers869312919
MSV3drs869312919
GWAS Ctlgrs869312919
Max Magnitude0
ClinVar
Risk rs869312919(A;A)
Alt rs869312919(A;A)
Reference Rs869312919(G;G)
Significance Pathogenic
Disease Inborn genetic diseases
Variation info
Gene GBE1
CLNDBN Inborn genetic diseases
Reversed 1
HGVS NC_000003.11:g.81643103C>T
CLNSRC
CLNACC RCV000210600.1,