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rs397515344

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397515344(C;C)
Make rs397515344(C;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position81648851
GeneGBE1
is asnp
is mentioned by
dbSNPrs397515344
ebirs397515344
HLIrs397515344
Exacrs397515344
Varsomers397515344
Maprs397515344
PheGenIrs397515344
hapmaprs397515344
1000 genomesrs397515344
hgdprs397515344
ensemblrs397515344
gopubmedrs397515344
geneviewrs397515344
scholarrs397515344
googlers397515344
pharmgkbrs397515344
gwascentralrs397515344
openSNPrs397515344
23andMers397515344
23andMe allrs397515344
SNP Nexus

SNPshotrs397515344
SNPdbers397515344
MSV3drs397515344
GWAS Ctlgrs397515344
Max Magnitude0
ClinVar
Risk rs397515344(C;C)
Alt rs397515344(C;C)
Reference rs397515344(G;G)
Significance Pathogenic
Disease Glycogen storage disease IV Glycogen storage disease
Variation info
Gene GBE1
CLNDBN Glycogen storage disease IV, congenital neuromuscular Glycogen storage disease, type IV
Reversed 1
HGVS NC_000003.11:g.81698002C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002926.1, RCV000056135.1,