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rs137852892

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852892(C;C)
Make rs137852892(C;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position81646466
GeneGBE1
is asnp
is mentioned by
dbSNPrs137852892
ebirs137852892
HLIrs137852892
Exacrs137852892
Varsomers137852892
Maprs137852892
PheGenIrs137852892
hapmaprs137852892
1000 genomesrs137852892
hgdprs137852892
ensemblrs137852892
gopubmedrs137852892
geneviewrs137852892
scholarrs137852892
googlers137852892
pharmgkbrs137852892
gwascentralrs137852892
openSNPrs137852892
23andMers137852892
23andMe allrs137852892
SNP Nexus

SNPshotrs137852892
SNPdbers137852892
MSV3drs137852892
GWAS Ctlgrs137852892
Max Magnitude0
OMIM607839
Desc
Variant0015
Relatedalso
ClinVar
Risk rs137852892(C;C)
Alt rs137852892(C;C)
Reference rs137852892(G;G)
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.81695617C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002924.1,