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rs113993979

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113993979(A;A)
Make rs113993979(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position50915373
GenePYGL
is asnp
is mentioned by
dbSNPrs113993979
ebirs113993979
HLIrs113993979
Exacrs113993979
Varsomers113993979
Maprs113993979
PheGenIrs113993979
hapmaprs113993979
1000 genomesrs113993979
hgdprs113993979
ensemblrs113993979
gopubmedrs113993979
geneviewrs113993979
scholarrs113993979
googlers113993979
pharmgkbrs113993979
gwascentralrs113993979
openSNPrs113993979
23andMers113993979
23andMe allrs113993979
SNP Nexus

SNPshotrs113993979
SNPdbers113993979
MSV3drs113993979
GWAS Ctlgrs113993979
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs113993979(A;A)
Alt rs113993979(A;A)
Reference rs113993979(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.51382091C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020493.2,


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