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rs1801176

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1801176(A;A)
Make rs1801176(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position42903948
GeneG6PC
is asnp
is mentioned by
dbSNPrs1801176
ebirs1801176
HLIrs1801176
Exacrs1801176
Varsomers1801176
Maprs1801176
PheGenIrs1801176
hapmaprs1801176
1000 genomesrs1801176
hgdprs1801176
ensemblrs1801176
gopubmedrs1801176
geneviewrs1801176
scholarrs1801176
googlers1801176
pharmgkbrs1801176
gwascentralrs1801176
openSNPrs1801176
23andMers1801176
23andMe allrs1801176
SNP Nexus

SNPshotrs1801176
SNPdbers1801176
MSV3drs1801176
GWAS Ctlgrs1801176
Max Magnitude0
OMIM232200
Desc
Variant0013
Relatedalso


ClinVar
Risk rs1801176(A;A)
Alt rs1801176(A;A)
Reference rs1801176(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.41055965G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020132.2,



[PMID 9001800] Genetic analysis of the glucose-6-phosphatase mutation of type 1a glycogen storage disease in a Chinese family.