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rs80356486

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CTT;CTT) 0 common in clinvar
(TTC;TTC) 0 common in clinvar
Make rs80356486(-;-)
Make rs80356486(-;TTC)
ReferenceGRCh38 38.1/141
Chromosome17
Position42911331
GeneG6PC
is asnp
is mentioned by
dbSNPrs80356486
ebirs80356486
HLIrs80356486
Exacrs80356486
Varsomers80356486
Maprs80356486
PheGenIrs80356486
hapmaprs80356486
1000 genomesrs80356486
hgdprs80356486
ensemblrs80356486
gopubmedrs80356486
geneviewrs80356486
scholarrs80356486
googlers80356486
pharmgkbrs80356486
gwascentralrs80356486
openSNPrs80356486
23andMers80356486
23andMe allrs80356486
SNP Nexus

SNPshotrs80356486
SNPdbers80356486
MSV3drs80356486
GWAS Ctlgrs80356486
Max Magnitude0
ClinVar
Risk rs80356486(;)
Alt rs80356486(;)
Reference rs80356486(CTT;CTT)
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.41063348_41063350delTTC
CLNSRC ClinVar GeneReviews
CLNACC RCV000239683.1,