Have questions? Visit https://www.reddit.com/r/SNPedia

rs397515343

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397515343(A;A)
Make rs397515343(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position81761374
GeneGBE1
is asnp
is mentioned by
dbSNPrs397515343
ebirs397515343
HLIrs397515343
Exacrs397515343
Varsomers397515343
Maprs397515343
PheGenIrs397515343
hapmaprs397515343
1000 genomesrs397515343
hgdprs397515343
ensemblrs397515343
gopubmedrs397515343
geneviewrs397515343
scholarrs397515343
googlers397515343
pharmgkbrs397515343
gwascentralrs397515343
openSNPrs397515343
23andMers397515343
23andMe allrs397515343
SNP Nexus

SNPshotrs397515343
SNPdbers397515343
MSV3drs397515343
GWAS Ctlgrs397515343
Max Magnitude0
ClinVar
Risk rs397515343(A;A)
Alt rs397515343(A;A)
Reference rs397515343(G;G)
Significance Pathogenic
Disease Glycogen storage disease IV Glycogen storage disease
Variation info
Gene GBE1
CLNDBN Glycogen storage disease IV, fatal perinatal neuromuscular Glycogen storage disease, type IV
Reversed 1
HGVS NC_000003.11:g.81810525C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002918.3, RCV000056092.1,