Rs113993981

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Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113993981(A;A)
Make rs113993981(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position50913028
GenePYGL
is asnp
is mentioned by
dbSNPrs113993981
PheGenIrs113993981
nextbiors113993981
hapmaprs113993981
1000 genomesrs113993981
hgdprs113993981
ensemblrs113993981
gopubmedrs113993981
geneviewrs113993981
scholarrs113993981
googlers113993981
pharmgkbrs113993981
gwascentralrs113993981
openSNPrs113993981
23andMers113993981
23andMe allrs113993981
SNP Nexus

SNPshotrs113993981
SNPdbers113993981
MSV3drs113993981
Max Magnitude0
OMIM232700
Desc
Variant0005
Relatedalso
ClinVar
Risk rs113993981(A;A)
Alt rs113993981(A;A)
Reference rs113993981(G;G)
Significance Pathogenic
Disease Glycogen storage disease
Variation info
Gene PYGL
CLNDBN Glycogen storage disease, type VI
Reversed 1
HGVS NC_000014.8:g.51379746C>T
CLNSRC GeneReviews OMIM Allelic Variant
CLNACC RCV000012776.1,


[PMID 9536091] Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI.