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rs137852891

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137852891(A;G)
Make rs137852891(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position81535246
GeneGBE1
is asnp
is mentioned by
dbSNPrs137852891
ebirs137852891
HLIrs137852891
Exacrs137852891
Varsomers137852891
Maprs137852891
PheGenIrs137852891
hapmaprs137852891
1000 genomesrs137852891
hgdprs137852891
ensemblrs137852891
gopubmedrs137852891
geneviewrs137852891
scholarrs137852891
googlers137852891
pharmgkbrs137852891
gwascentralrs137852891
openSNPrs137852891
23andMers137852891
23andMe allrs137852891
SNP Nexus

SNPshotrs137852891
SNPdbers137852891
MSV3drs137852891
GWAS Ctlgrs137852891
Max Magnitude0
OMIM607839
Desc
Variant0013
Relatedalso
ClinVar
Risk rs137852891(G;G)
Alt rs137852891(G;G)
Reference rs137852891(A;A)
Significance Pathogenic
Disease Glycogen storage disease IV Glycogen storage disease
Variation info
Gene GBE1
CLNDBN Glycogen storage disease IV, childhood neuromuscular Glycogen storage disease, type IV
Reversed 1
HGVS NC_000003.11:g.81584397T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002922.3, RCV000056098.1,