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rs113993984

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113993984(A;A)
Make rs113993984(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position50910055
GenePYGL
is asnp
is mentioned by
dbSNPrs113993984
ebirs113993984
HLIrs113993984
Exacrs113993984
Varsomers113993984
Maprs113993984
PheGenIrs113993984
hapmaprs113993984
1000 genomesrs113993984
hgdprs113993984
ensemblrs113993984
gopubmedrs113993984
geneviewrs113993984
scholarrs113993984
googlers113993984
pharmgkbrs113993984
gwascentralrs113993984
openSNPrs113993984
23andMers113993984
23andMe allrs113993984
SNP Nexus

SNPshotrs113993984
SNPdbers113993984
MSV3drs113993984
GWAS Ctlgrs113993984
Max Magnitude0
ClinVar
Risk rs113993984(A;A)
Alt rs113993984(A;A)
Reference rs113993984(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.51376773C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020497.2,


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