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rs113993975

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113993975(A;A)
Make rs113993975(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position50921030
GenePYGL
is asnp
is mentioned by
dbSNPrs113993975
ebirs113993975
HLIrs113993975
Exacrs113993975
Varsomers113993975
Maprs113993975
PheGenIrs113993975
hapmaprs113993975
1000 genomesrs113993975
hgdprs113993975
ensemblrs113993975
gopubmedrs113993975
geneviewrs113993975
scholarrs113993975
googlers113993975
pharmgkbrs113993975
gwascentralrs113993975
openSNPrs113993975
23andMers113993975
23andMe allrs113993975
SNP Nexus

SNPshotrs113993975
SNPdbers113993975
MSV3drs113993975
GWAS Ctlgrs113993975
Max Magnitude0
ClinVar
Risk rs113993975(A;A)
Alt rs113993975(A;A)
Reference rs113993975(G;G)
Significance Pathogenic
Disease Glycogen storage disease
Variation info
Gene PYGL
CLNDBN Glycogen storage disease, type VI
Reversed 1
HGVS NC_000014.8:g.51387748C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020504.2,


[PMID 12809646] A novel mutation (G233D) in the glycogen phosphorylase gene in a patient with hepatic glycogen storage disease and residual enzyme activity.