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rs137852894

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852894(A;A)
Make rs137852894(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position81537071
GeneGBE1
is asnp
is mentioned by
dbSNPrs137852894
dbSNP (old)rs137852894
ClinGenrs137852894
ebirs137852894
HLIrs137852894
Exacrs137852894
Gnomadrs137852894
Varsomers137852894
Maprs137852894
PheGenIrs137852894
Biobankrs137852894
1000 genomesrs137852894
hgdprs137852894
ensemblrs137852894
gopubmedrs137852894
geneviewrs137852894
scholarrs137852894
googlers137852894
pharmgkbrs137852894
gwascentralrs137852894
openSNPrs137852894
23andMers137852894
23andMe allrs137852894
SNP Nexus

SNPshotrs137852894
SNPdbers137852894
MSV3drs137852894
GWAS Ctlgrs137852894
Max Magnitude0
OMIM607839
Desc
Variant0018
Relatedalso
ClinVar
Risk rs137852894(A;A)
Alt rs137852894(A;A)
Reference Rs137852894(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.81586222C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002927.1, RCV000056096.1,