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rs397515342

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397515342(A;A)
Make rs397515342(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position81642991
GeneGBE1
is asnp
is mentioned by
dbSNPrs397515342
ebirs397515342
HLIrs397515342
Exacrs397515342
Varsomers397515342
Maprs397515342
PheGenIrs397515342
hapmaprs397515342
1000 genomesrs397515342
hgdprs397515342
ensemblrs397515342
gopubmedrs397515342
geneviewrs397515342
scholarrs397515342
googlers397515342
pharmgkbrs397515342
gwascentralrs397515342
openSNPrs397515342
23andMers397515342
23andMe allrs397515342
SNP Nexus

SNPshotrs397515342
SNPdbers397515342
MSV3drs397515342
GWAS Ctlgrs397515342
Max Magnitude0
ClinVar
Risk rs397515342(A;A)
Alt rs397515342(A;A)
Reference rs397515342(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.81692142C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002906.1,