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rs113993980

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113993980(C;T)
Make rs113993980(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position50914748
GenePYGL
is asnp
is mentioned by
dbSNPrs113993980
ebirs113993980
HLIrs113993980
Exacrs113993980
Varsomers113993980
Maprs113993980
PheGenIrs113993980
hapmaprs113993980
1000 genomesrs113993980
hgdprs113993980
ensemblrs113993980
gopubmedrs113993980
geneviewrs113993980
scholarrs113993980
googlers113993980
pharmgkbrs113993980
gwascentralrs113993980
openSNPrs113993980
23andMers113993980
23andMe allrs113993980
SNP Nexus

SNPshotrs113993980
SNPdbers113993980
MSV3drs113993980
GWAS Ctlgrs113993980
Max Magnitude0
ClinVar
Risk rs113993980(T;T)
Alt rs113993980(T;T)
Reference rs113993980(C;C)
Significance Pathogenic
Disease Glycogen storage disease
Variation info
Gene PYGL
CLNDBN Glycogen storage disease, type VI
Reversed 1
HGVS NC_000014.8:g.51381466G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020494.2,


[PMID 17705025] High frequency of missense mutations in glycogen storage disease type VI.