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rs113993983

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs113993983(A;T)
Make rs113993983(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position50911804
GenePYGL
is asnp
is mentioned by
dbSNPrs113993983
dbSNP (old)rs113993983
ClinGenrs113993983
ebirs113993983
HLIrs113993983
Exacrs113993983
Gnomadrs113993983
Varsomers113993983
Maprs113993983
PheGenIrs113993983
Biobankrs113993983
1000 genomesrs113993983
hgdprs113993983
ensemblrs113993983
gopubmedrs113993983
geneviewrs113993983
scholarrs113993983
googlers113993983
pharmgkbrs113993983
gwascentralrs113993983
openSNPrs113993983
23andMers113993983
23andMe allrs113993983
SNP Nexus

SNPshotrs113993983
SNPdbers113993983
MSV3drs113993983
GWAS Ctlgrs113993983
Max Magnitude0
ClinVar
Risk rs113993983(T;T)
Alt rs113993983(T;T)
Reference Rs113993983(A;A)
Significance Pathogenic
Disease Glycogen storage disease
Variation info
Gene PYGL
CLNDBN Glycogen storage disease, type VI
Reversed 1
HGVS NC_000014.8:g.51378522T>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020495.2,


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