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rs113993987

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs113993987(A;C)
Make rs113993987(C;C)
ReferenceGRCh38 38.1/141
Chromosome14
Position50910030
GenePYGL
is asnp
is mentioned by
dbSNPrs113993987
ebirs113993987
HLIrs113993987
Exacrs113993987
Varsomers113993987
Maprs113993987
PheGenIrs113993987
hapmaprs113993987
1000 genomesrs113993987
hgdprs113993987
ensemblrs113993987
gopubmedrs113993987
geneviewrs113993987
scholarrs113993987
googlers113993987
pharmgkbrs113993987
gwascentralrs113993987
openSNPrs113993987
23andMers113993987
23andMe allrs113993987
SNP Nexus

SNPshotrs113993987
SNPdbers113993987
MSV3drs113993987
GWAS Ctlgrs113993987
Max Magnitude0
ClinVar
Risk rs113993987(C;C)
Alt rs113993987(C;C)
Reference rs113993987(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.51376748T>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000020500.2,


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