Rs113993977

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Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113993977(C;G)
Make rs113993977(G;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position50915933
GenePYGL
is asnp
is mentioned by
dbSNPrs113993977
Exacrs113993977
PheGenIrs113993977
nextbiors113993977
hapmaprs113993977
1000 genomesrs113993977
hgdprs113993977
ensemblrs113993977
gopubmedrs113993977
geneviewrs113993977
scholarrs113993977
googlers113993977
pharmgkbrs113993977
gwascentralrs113993977
openSNPrs113993977
23andMers113993977
23andMe allrs113993977
SNP Nexus

SNPshotrs113993977
SNPdbers113993977
MSV3drs113993977
OMIM232700
Desc
Variant0004
Relatedalso
ClinVar
Risk rs113993977(G;G)
Alt rs113993977(G;G)
Reference rs113993977(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.51382651G>C
CLNSRC GeneReviews OMIM Allelic Variant
CLNACC RCV000012775.2,


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