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rs137852889

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137852889(A;G)
Make rs137852889(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position81537080
GeneGBE1
is asnp
is mentioned by
dbSNPrs137852889
ebirs137852889
HLIrs137852889
Exacrs137852889
Varsomers137852889
Maprs137852889
PheGenIrs137852889
hapmaprs137852889
1000 genomesrs137852889
hgdprs137852889
ensemblrs137852889
gopubmedrs137852889
geneviewrs137852889
scholarrs137852889
googlers137852889
pharmgkbrs137852889
gwascentralrs137852889
openSNPrs137852889
23andMers137852889
23andMe allrs137852889
SNP Nexus

SNPshotrs137852889
SNPdbers137852889
MSV3drs137852889
GWAS Ctlgrs137852889
Max Magnitude0
OMIM607839
Desc
Variant0010
Relatedalso
ClinVar
Risk rs137852889(G;G)
Alt rs137852889(G;G)
Reference rs137852889(A;A)
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.81586231T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002919.3, RCV000056095.1,