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rs80356479

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80356479(-;-)
Make rs80356479(-;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position42900955
GeneG6PC
is asnp
is mentioned by
dbSNPrs80356479
dbSNP (classic)rs80356479
ClinGenrs80356479
ebirs80356479
HLIrs80356479
Exacrs80356479
Gnomadrs80356479
Varsomers80356479
LitVarrs80356479
Maprs80356479
PheGenIrs80356479
Biobankrs80356479
1000 genomesrs80356479
hgdprs80356479
ensemblrs80356479
geneviewrs80356479
scholarrs80356479
googlers80356479
pharmgkbrs80356479
gwascentralrs80356479
openSNPrs80356479
23andMers80356479
SNPshotrs80356479
SNPdbers80356479
MSV3drs80356479
GWAS Ctlgrs80356479
Max Magnitude0
ClinVar
Risk rs80356479(-;-)
Alt rs80356479(-;-)
Reference Rs80356479(C;C)
Significance Pathogenic
Disease Glycogen storage disease type 1A not provided Glycogen storage disease
Variation info
Gene G6PC
CLNDBN Glycogen storage disease type 1A not provided Glycogen storage disease, type I
Reversed 0
HGVS NC_000017.10:g.41052972delC
CLNSRC ClinVar GeneReviews
CLNACC RCV000173073.2, RCV000199426.3, RCV000305827.1,