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rs113993973

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113993973(C;T)
Make rs113993973(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position50937801
GenePYGL
is asnp
is mentioned by
dbSNPrs113993973
ebirs113993973
HLIrs113993973
Exacrs113993973
Varsomers113993973
Maprs113993973
PheGenIrs113993973
hapmaprs113993973
1000 genomesrs113993973
hgdprs113993973
ensemblrs113993973
gopubmedrs113993973
geneviewrs113993973
scholarrs113993973
googlers113993973
pharmgkbrs113993973
gwascentralrs113993973
openSNPrs113993973
23andMers113993973
23andMe allrs113993973
SNP Nexus

SNPshotrs113993973
SNPdbers113993973
MSV3drs113993973
GWAS Ctlgrs113993973
Max Magnitude0
ClinVar
Risk rs113993973(T;T)
Alt rs113993973(T;T)
Reference rs113993973(C;C)
Significance Pathogenic
Disease Glycogen storage disease
Variation info
Gene PYGL
CLNDBN Glycogen storage disease, type VI
Reversed 1
HGVS NC_000014.8:g.51404519G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020502.2,