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rs113993972

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs113993972(A;C)
Make rs113993972(C;C)
ReferenceGRCh38 38.1/141
Chromosome14
Position50944366
GenePYGL
is asnp
is mentioned by
dbSNPrs113993972
ebirs113993972
HLIrs113993972
Exacrs113993972
Varsomers113993972
Maprs113993972
PheGenIrs113993972
hapmaprs113993972
1000 genomesrs113993972
hgdprs113993972
ensemblrs113993972
gopubmedrs113993972
geneviewrs113993972
scholarrs113993972
googlers113993972
pharmgkbrs113993972
gwascentralrs113993972
openSNPrs113993972
23andMers113993972
23andMe allrs113993972
SNP Nexus

SNPshotrs113993972
SNPdbers113993972
MSV3drs113993972
GWAS Ctlgrs113993972
Max Magnitude0
ClinVar
Risk rs113993972(C;C)
Alt rs113993972(C;C)
Reference rs113993972(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.51411084T>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000020503.2,


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