Have questions? Visit https://www.reddit.com/r/SNPedia

rs113993988

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs113993988(C;C)
Make rs113993988(C;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position50905475
GenePYGL
is asnp
is mentioned by
dbSNPrs113993988
ebirs113993988
HLIrs113993988
Exacrs113993988
Varsomers113993988
Maprs113993988
PheGenIrs113993988
hapmaprs113993988
1000 genomesrs113993988
hgdprs113993988
ensemblrs113993988
gopubmedrs113993988
geneviewrs113993988
scholarrs113993988
googlers113993988
pharmgkbrs113993988
gwascentralrs113993988
openSNPrs113993988
23andMers113993988
23andMe allrs113993988
SNP Nexus

SNPshotrs113993988
SNPdbers113993988
MSV3drs113993988
GWAS Ctlgrs113993988
Max Magnitude0
ClinVar
Risk rs113993988(C;C)
Alt rs113993988(C;C)
Reference rs113993988(T;T)
Significance Pathogenic
Disease Glycogen storage disease
Variation info
Gene PYGL
CLNDBN Glycogen storage disease, type VI
Reversed 1
HGVS NC_000014.8:g.51372193A>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000020501.2,