Rs113993974

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Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113993974(C;C)
Make rs113993974(C;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position50924101
GenePYGL
is asnp
is mentioned by
dbSNPrs113993974
Exacrs113993974
PheGenIrs113993974
nextbiors113993974
hapmaprs113993974
1000 genomesrs113993974
hgdprs113993974
ensemblrs113993974
gopubmedrs113993974
geneviewrs113993974
scholarrs113993974
googlers113993974
pharmgkbrs113993974
gwascentralrs113993974
openSNPrs113993974
23andMers113993974
23andMe allrs113993974
SNP Nexus

SNPshotrs113993974
SNPdbers113993974
MSV3drs113993974
OMIM232700
Desc
Variant0002
Relatedalso
ClinVar
Risk rs113993974(C;C)
Alt rs113993974(C;C)
Reference rs113993974(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.51390819C>G
CLNSRC GeneReviews OMIM Allelic Variant
CLNACC RCV000012773.1,


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