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rs80356484

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356484(G;T)
Make rs80356484(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position42911000
GeneG6PC
is asnp
is mentioned by
dbSNPrs80356484
ebirs80356484
HLIrs80356484
Exacrs80356484
Varsomers80356484
Maprs80356484
PheGenIrs80356484
hapmaprs80356484
1000 genomesrs80356484
hgdprs80356484
ensemblrs80356484
gopubmedrs80356484
geneviewrs80356484
scholarrs80356484
googlers80356484
pharmgkbrs80356484
gwascentralrs80356484
openSNPrs80356484
23andMers80356484
23andMe allrs80356484
SNP Nexus

SNPshotrs80356484
SNPdbers80356484
MSV3drs80356484
GWAS Ctlgrs80356484
Max Magnitude0
ClinVar
Risk rs80356484(T;T)
Alt rs80356484(T;T)
Reference rs80356484(G;G)
Significance Pathogenic
Disease Glycogen storage disease type 1A
Variation info
Gene G6PC
CLNDBN Glycogen storage disease type 1A
Reversed 0
HGVS NC_000017.10:g.41063017G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012783.4,


[PMID 9630072] Glucose-6-phosphatase gene (727G-->T) splicing mutation is prevalent in Hong Kong Chinese patients with glycogen storage disease type 1a.