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rs80356488

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(TAC;TAC) 0 common in clinvar
Make rs80356488(-;-)
Make rs80356488(-;TA)
Make rs80356488(TA;TA)
ReferenceGRCh38 38.1/141
Chromosome17
Position42907562
GeneG6PC
is asnp
is mentioned by
dbSNPrs80356488
ebirs80356488
HLIrs80356488
Exacrs80356488
Varsomers80356488
Maprs80356488
PheGenIrs80356488
hapmaprs80356488
1000 genomesrs80356488
hgdprs80356488
ensemblrs80356488
gopubmedrs80356488
geneviewrs80356488
scholarrs80356488
googlers80356488
pharmgkbrs80356488
gwascentralrs80356488
openSNPrs80356488
23andMers80356488
23andMe allrs80356488
SNP Nexus

SNPshotrs80356488
SNPdbers80356488
MSV3drs80356488
GWAS Ctlgrs80356488
Max Magnitude0
OMIM232200
Desc
Variant0001
Relatedalso
ClinVar
Risk rs80356488(TA;TA)
Alt rs80356488(TA;TA)
Reference rs80356488(TAC;TAC)
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.41059578_41059579dupTA
CLNSRC OMIM Allelic Variant
CLNACC RCV000012777.4,


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

[PMID 8211187] Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a.