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rs137852887

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137852887(A;A)
Make rs137852887(A;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position81646403
GeneGBE1
is asnp
is mentioned by
dbSNPrs137852887
ebirs137852887
HLIrs137852887
Exacrs137852887
Varsomers137852887
Maprs137852887
PheGenIrs137852887
hapmaprs137852887
1000 genomesrs137852887
hgdprs137852887
ensemblrs137852887
gopubmedrs137852887
geneviewrs137852887
scholarrs137852887
googlers137852887
pharmgkbrs137852887
gwascentralrs137852887
openSNPrs137852887
23andMers137852887
23andMe allrs137852887
SNP Nexus

SNPshotrs137852887
SNPdbers137852887
MSV3drs137852887
GWAS Ctlgrs137852887
Max Magnitude0
OMIM607839
Desc
Variant0005
Relatedalso
ClinVar
Risk rs137852887(A;A)
Alt rs137852887(A;A)
Reference rs137852887(T;T)
Significance Pathogenic
Disease Glycogen storage disease IV Glycogen storage disease
Variation info
Gene GBE1
CLNDBN Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV
Reversed 1
HGVS NC_000003.11:g.81695554A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002912.3, RCV000056143.1,