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rs113993982

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113993982(A;A)
Make rs113993982(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position50912155
GenePYGL
is asnp
is mentioned by
dbSNPrs113993982
ebirs113993982
HLIrs113993982
Exacrs113993982
Varsomers113993982
Maprs113993982
PheGenIrs113993982
hapmaprs113993982
1000 genomesrs113993982
hgdprs113993982
ensemblrs113993982
gopubmedrs113993982
geneviewrs113993982
scholarrs113993982
googlers113993982
pharmgkbrs113993982
gwascentralrs113993982
openSNPrs113993982
23andMers113993982
23andMe allrs113993982
SNP Nexus

SNPshotrs113993982
SNPdbers113993982
MSV3drs113993982
GWAS Ctlgrs113993982
Max Magnitude0
OMIM232700
Desc
Variant0001
Relatedalso
ClinVar
Risk rs113993982(A,C;A,C)
Alt rs113993982(A,C;A,C)
Reference rs113993982(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.51378873C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012772.3,


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