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rs137852893

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852893(C;T)
Make rs137852893(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position81642989
GeneGBE1
is asnp
is mentioned by
dbSNPrs137852893
ebirs137852893
HLIrs137852893
Exacrs137852893
Varsomers137852893
Maprs137852893
PheGenIrs137852893
hapmaprs137852893
1000 genomesrs137852893
hgdprs137852893
ensemblrs137852893
gopubmedrs137852893
geneviewrs137852893
scholarrs137852893
googlers137852893
pharmgkbrs137852893
gwascentralrs137852893
openSNPrs137852893
23andMers137852893
23andMe allrs137852893
SNP Nexus

SNPshotrs137852893
SNPdbers137852893
MSV3drs137852893
GWAS Ctlgrs137852893
Max Magnitude0
OMIM607839
Desc
Variant0016
Relatedalso
ClinVar
Risk rs137852893(T;T)
Alt rs137852893(T;T)
Reference rs137852893(C;C)
Significance Pathogenic
Disease Glycogen storage disease IV
Variation info
Gene GBE1
CLNDBN Glycogen storage disease IV, congenital neuromuscular
Reversed 1
HGVS NC_000003.11:g.81692140G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002925.1,