Rs113993976

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Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs113993976(A;G)
Make rs113993976(G;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position50916718
GenePYGL
is asnp
is mentioned by
dbSNPrs113993976
Exacrs113993976
PheGenIrs113993976
nextbiors113993976
hapmaprs113993976
1000 genomesrs113993976
hgdprs113993976
ensemblrs113993976
gopubmedrs113993976
geneviewrs113993976
scholarrs113993976
googlers113993976
pharmgkbrs113993976
gwascentralrs113993976
openSNPrs113993976
23andMers113993976
23andMe allrs113993976
SNP Nexus

SNPshotrs113993976
SNPdbers113993976
MSV3drs113993976
Max Magnitude0
OMIM232700
Desc
Variant0003
Relatedalso
ClinVar
Risk rs113993976(G;G)
Alt rs113993976(G;G)
Reference rs113993976(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.51383436T>C
CLNSRC GeneReviews OMIM Allelic Variant
CLNACC RCV000031853.2,


[PMID 9529348OA-icon.png] Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI.