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rs137852890

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852890(G;T)
Make rs137852890(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position81536940
GeneGBE1
is asnp
is mentioned by
dbSNPrs137852890
ebirs137852890
HLIrs137852890
Exacrs137852890
Varsomers137852890
Maprs137852890
PheGenIrs137852890
hapmaprs137852890
1000 genomesrs137852890
hgdprs137852890
ensemblrs137852890
gopubmedrs137852890
geneviewrs137852890
scholarrs137852890
googlers137852890
pharmgkbrs137852890
gwascentralrs137852890
openSNPrs137852890
23andMers137852890
23andMe allrs137852890
SNP Nexus

SNPshotrs137852890
SNPdbers137852890
MSV3drs137852890
GWAS Ctlgrs137852890
Max Magnitude0
OMIM607839
Desc
Variant0011
Relatedalso
ClinVar
Risk rs137852890(A,T;A,T)
Alt rs137852890(A,T;A,T)
Reference rs137852890(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.81586091C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002920.1, RCV000056097.1,