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rs80356487

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80356487(C;T)
Make rs80356487(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position42911391
GeneG6PC
is asnp
is mentioned by
dbSNPrs80356487
dbSNP (old)rs80356487
ClinGenrs80356487
ebirs80356487
HLIrs80356487
Exacrs80356487
Gnomadrs80356487
Varsomers80356487
Maprs80356487
PheGenIrs80356487
Biobankrs80356487
1000 genomesrs80356487
hgdprs80356487
ensemblrs80356487
gopubmedrs80356487
geneviewrs80356487
scholarrs80356487
googlers80356487
pharmgkbrs80356487
gwascentralrs80356487
openSNPrs80356487
23andMers80356487
23andMe allrs80356487
SNP Nexus

SNPshotrs80356487
SNPdbers80356487
MSV3drs80356487
GWAS Ctlgrs80356487
GMAF0.0009183
Max Magnitude0
OMIM232200
Desc
Variant0004
Relatedalso
ClinVar
Risk rs80356487(G;G) rs80356487(T;T)
Alt rs80356487(G;G) rs80356487(T;T)
Reference Rs80356487(C;C)
Significance Pathogenic
Disease Glycogen storage disease type 1A not provided
Variation info
Gene G6PC
CLNDBN Glycogen storage disease type 1A not provided
Reversed 0
HGVS NC_000017.10:g.41063408C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012780.4, RCV000199372.3,


[PMID 7573034OA-icon.png] Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus.

[PMID 8182131OA-icon.png] Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a.