Have questions? Visit https://www.reddit.com/r/SNPedia

rs80356485

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80356485(C;T)
Make rs80356485(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position42911076
GeneG6PC
is asnp
is mentioned by
dbSNPrs80356485
ebirs80356485
HLIrs80356485
Exacrs80356485
Varsomers80356485
Maprs80356485
PheGenIrs80356485
hapmaprs80356485
1000 genomesrs80356485
hgdprs80356485
ensemblrs80356485
gopubmedrs80356485
geneviewrs80356485
scholarrs80356485
googlers80356485
pharmgkbrs80356485
gwascentralrs80356485
openSNPrs80356485
23andMers80356485
23andMe allrs80356485
SNP Nexus

SNPshotrs80356485
SNPdbers80356485
MSV3drs80356485
GWAS Ctlgrs80356485
Max Magnitude0
ClinVar
Risk rs80356485(T;T)
Alt rs80356485(T;T)
Reference rs80356485(C;C)
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.41063093C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000239641.1,


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