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rs80338671

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80338671(A;C)
Make rs80338671(C;C)
ReferenceGRCh38 38.1/142
Chromosome3
Position81642787
GeneGBE1
is asnp
is mentioned by
dbSNPrs80338671
ebirs80338671
HLIrs80338671
Exacrs80338671
Varsomers80338671
Maprs80338671
PheGenIrs80338671
hapmaprs80338671
1000 genomesrs80338671
hgdprs80338671
ensemblrs80338671
gopubmedrs80338671
geneviewrs80338671
scholarrs80338671
googlers80338671
pharmgkbrs80338671
gwascentralrs80338671
openSNPrs80338671
23andMers80338671
23andMe allrs80338671
SNP Nexus

SNPshotrs80338671
SNPdbers80338671
MSV3drs80338671
GWAS Ctlgrs80338671
Max Magnitude0
OMIM607839
Desc
Variant0002
Relatedalso
ClinVar
Risk rs80338671(C,G;C,G)
Alt rs80338671(C,G;C,G)
Reference rs80338671(A;A)
Significance Pathogenic
Disease Glycogen storage disease IV Glycogen storage disease Adult polyglucosan body neuropathy
Variation info
Gene GBE1
CLNDBN Glycogen storage disease IV, nonprogressIVe hepatic Glycogen storage disease, type IV Adult polyglucosan body neuropathy
Reversed 1
HGVS NC_000003.11:g.81691938T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002907.6, RCV000020163.1, RCV000150105.5,


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