Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338671
rs80338671
0.720 GeneticVariation BEFREE A non-catalytic binding cleft, proximal to the site of the common APBD mutation p.Y329S, was found to bind the tetra- and hepta-saccharides and may represent a higher-affinity site employed to anchor the complex glycogen substrate for the branching reaction. 26199317

2015

dbSNP: rs80338671
rs80338671
0.720 GeneticVariation BEFREE We found that the clinical and biochemical APBD phenotype in all five families cosegregated with the Tyr329Ser mutation, not detected in 140 controls. 9851430

1998

dbSNP: rs80338671
rs80338671
G 0.720 CausalMutation CLINVAR

dbSNP: rs201958741
rs201958741
0.710 GeneticVariation BEFREE Autopsy of a 50-year-old woman with adult polyglucosan body disease and missense mutations (Arg515His, Arg524Gln) in the glycogen branching enzyme gene (GBE) revealed accumulation of polyglucosan bodies in the heart, brain, and nerve. 12874416

2003

dbSNP: rs201958741
rs201958741
0.710 GeneticVariation UNIPROT

dbSNP: rs137852893
rs137852893
A 0.700 CausalMutation CLINVAR

dbSNP: rs192044702
rs192044702
G 0.700 CausalMutation CLINVAR

dbSNP: rs369574719
rs369574719
T 0.700 CausalMutation CLINVAR

dbSNP: rs80338673
rs80338673
0.700 GeneticVariation UNIPROT

dbSNP: rs752711257
rs752711257
0.010 GeneticVariation BEFREE Therefore, we performed additional investigations that eventually led to the diagnosis of adult polyglucosan body disease caused by two novel missense mutations (p.Asp413His and p.Gly534Val) in the glycogen branching enzyme gene. 24380807

2014