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rs80338672

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338672(C;T)
Make rs80338672(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position81578000
GeneGBE1
is asnp
is mentioned by
dbSNPrs80338672
ebirs80338672
HLIrs80338672
Exacrs80338672
Varsomers80338672
Maprs80338672
PheGenIrs80338672
hapmaprs80338672
1000 genomesrs80338672
hgdprs80338672
ensemblrs80338672
gopubmedrs80338672
geneviewrs80338672
scholarrs80338672
googlers80338672
pharmgkbrs80338672
gwascentralrs80338672
openSNPrs80338672
23andMers80338672
23andMe allrs80338672
SNP Nexus

SNPshotrs80338672
SNPdbers80338672
MSV3drs80338672
GWAS Ctlgrs80338672
Max Magnitude0
OMIM607839
Desc
Variant0004
Relatedalso
ClinVar
Risk rs80338672(T;T)
Alt rs80338672(T;T)
Reference rs80338672(C;C)
Significance Pathogenic
Disease Glycogen storage disease IV Glycogen storage disease Inborn genetic diseases
Variation info
Gene GBE1
CLNDBN Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV Inborn genetic diseases
Reversed 1
HGVS NC_000003.11:g.81627151G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002910.6, RCV000020161.1, RCV000210646.1,


[PMID 8613547OA-icon.png] Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.


[PMID 10762170] Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease.