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rs113993986

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113993986(C;T)
Make rs113993986(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position50910048
GenePYGL
is asnp
is mentioned by
dbSNPrs113993986
ebirs113993986
HLIrs113993986
Exacrs113993986
Varsomers113993986
Maprs113993986
PheGenIrs113993986
hapmaprs113993986
1000 genomesrs113993986
hgdprs113993986
ensemblrs113993986
gopubmedrs113993986
geneviewrs113993986
scholarrs113993986
googlers113993986
pharmgkbrs113993986
gwascentralrs113993986
openSNPrs113993986
23andMers113993986
23andMe allrs113993986
SNP Nexus

SNPshotrs113993986
SNPdbers113993986
MSV3drs113993986
GWAS Ctlgrs113993986
Max Magnitude0
ClinVar
Risk rs113993986(G,T;G,T)
Alt rs113993986(G,T;G,T)
Reference rs113993986(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.51376766G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020499.2,


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