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rs80356482

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356482(C;C)
Make rs80356482(C;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position42909418
GeneG6PC
is asnp
is mentioned by
dbSNPrs80356482
ebirs80356482
HLIrs80356482
Exacrs80356482
Varsomers80356482
Maprs80356482
PheGenIrs80356482
hapmaprs80356482
1000 genomesrs80356482
hgdprs80356482
ensemblrs80356482
gopubmedrs80356482
geneviewrs80356482
scholarrs80356482
googlers80356482
pharmgkbrs80356482
gwascentralrs80356482
openSNPrs80356482
23andMers80356482
23andMe allrs80356482
SNP Nexus

SNPshotrs80356482
SNPdbers80356482
MSV3drs80356482
GWAS Ctlgrs80356482
Max Magnitude0
OMIM232200
Desc
Variant0012
Relatedalso
ClinVar
Risk rs80356482(A,C;A,C)
Alt rs80356482(A,C;A,C)
Reference rs80356482(G;G)
Significance Pathogenic
Disease not provided Glycogen storage disease type 1A
Variation info
Gene G6PC
CLNDBN not provided Glycogen storage disease type 1A
Reversed 0
HGVS NC_000017.10:g.41061435G>A; NC_000017.10:g.41061435G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000197003.2, RCV000012788.4,


[PMID 8733042OA-icon.png] Mutation analysis in 24 French patients with glycogen storage disease type 1a.


[PMID 10960498] Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype.