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rs113993985

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs113993985(A;A)
Make rs113993985(A;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position50910049
GenePYGL
is asnp
is mentioned by
dbSNPrs113993985
ebirs113993985
HLIrs113993985
Exacrs113993985
Varsomers113993985
Maprs113993985
PheGenIrs113993985
hapmaprs113993985
1000 genomesrs113993985
hgdprs113993985
ensemblrs113993985
gopubmedrs113993985
geneviewrs113993985
scholarrs113993985
googlers113993985
pharmgkbrs113993985
gwascentralrs113993985
openSNPrs113993985
23andMers113993985
23andMe allrs113993985
SNP Nexus

SNPshotrs113993985
SNPdbers113993985
MSV3drs113993985
GWAS Ctlgrs113993985
Max Magnitude0
ClinVar
Risk rs113993985(A;A)
Alt rs113993985(A;A)
Reference rs113993985(T;T)
Significance Pathogenic
Disease Glycogen storage disease
Variation info
Gene PYGL
CLNDBN Glycogen storage disease, type VI
Reversed 1
HGVS NC_000014.8:g.51376767A>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020498.2,


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