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rs137852888

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852888(C;T)
Make rs137852888(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position81577973
GeneGBE1
is asnp
is mentioned by
dbSNPrs137852888
ebirs137852888
HLIrs137852888
Exacrs137852888
Varsomers137852888
Maprs137852888
PheGenIrs137852888
hapmaprs137852888
1000 genomesrs137852888
hgdprs137852888
ensemblrs137852888
gopubmedrs137852888
geneviewrs137852888
scholarrs137852888
googlers137852888
pharmgkbrs137852888
gwascentralrs137852888
openSNPrs137852888
23andMers137852888
23andMe allrs137852888
SNP Nexus

SNPshotrs137852888
SNPdbers137852888
MSV3drs137852888
GWAS Ctlgrs137852888
Max Magnitude0
OMIM607839
Desc
Variant0006
Relatedalso
ClinVar
Risk rs137852888(T;T)
Alt rs137852888(T;T)
Reference rs137852888(C;C)
Significance Pathogenic
Disease Glycogen storage disease IV Glycogen storage disease IV Glycogen storage disease
Variation info
Gene GBE1
CLNDBN Glycogen storage disease IV, classic hepatic Glycogen storage disease IV, childhood neuromuscular Glycogen storage disease, type IV
Reversed 1
HGVS NC_000003.11:g.81627124G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002913.3, RCV000002914.3, RCV000056093.1,