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rs80356483

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356483(G;T)
Make rs80356483(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position42911161
GeneG6PC
is asnp
is mentioned by
dbSNPrs80356483
ebirs80356483
HLIrs80356483
Exacrs80356483
Varsomers80356483
Maprs80356483
PheGenIrs80356483
hapmaprs80356483
1000 genomesrs80356483
hgdprs80356483
ensemblrs80356483
gopubmedrs80356483
geneviewrs80356483
scholarrs80356483
googlers80356483
pharmgkbrs80356483
gwascentralrs80356483
openSNPrs80356483
23andMers80356483
23andMe allrs80356483
SNP Nexus

SNPshotrs80356483
SNPdbers80356483
MSV3drs80356483
GWAS Ctlgrs80356483
Max Magnitude0
ClinVar
Risk rs80356483(T;T)
Alt rs80356483(T;T)
Reference rs80356483(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.41063178G>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000239699.1,