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rs113993978

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113993978(C;T)
Make rs113993978(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position50915869
GenePYGL
is asnp
is mentioned by
dbSNPrs113993978
ebirs113993978
HLIrs113993978
Exacrs113993978
Varsomers113993978
Maprs113993978
PheGenIrs113993978
hapmaprs113993978
1000 genomesrs113993978
hgdprs113993978
ensemblrs113993978
gopubmedrs113993978
geneviewrs113993978
scholarrs113993978
googlers113993978
pharmgkbrs113993978
gwascentralrs113993978
openSNPrs113993978
23andMers113993978
23andMe allrs113993978
SNP Nexus

SNPshotrs113993978
SNPdbers113993978
MSV3drs113993978
GWAS Ctlgrs113993978
Max Magnitude0
ClinVar
Risk rs113993978(T;T)
Alt rs113993978(T;T)
Reference rs113993978(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.51382587G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020492.2,


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