Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338671
rs80338671
0.800 CausalMutation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532

2017

dbSNP: rs80338671
rs80338671
0.800 GeneticVariation UNIPROT Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design. 26199317

2016

dbSNP: rs80338671
rs80338671
0.800 CausalMutation CLINVAR Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design. 26199317

2016

dbSNP: rs80338671
rs80338671
0.800 CausalMutation CLINVAR A novel mouse model that recapitulates adult-onset glycogenosis type 4. 26385640

2015

dbSNP: rs80338671
rs80338671
0.800 CausalMutation CLINVAR Adult Polyglucosan Body Disease (APBD): Anaplerotic diet therapy (Triheptanoin) and demonstration of defective methylation pathways. 20655781

2011

dbSNP: rs137852887
rs137852887
0.800 CausalMutation CLINVAR Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. 8613547

1996

dbSNP: rs137852887
rs137852887
0.800 GeneticVariation UNIPROT Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. 8613547

1996

dbSNP: rs80338671
rs80338671
0.800 GeneticVariation UNIPROT Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. 8613547

1996

dbSNP: rs80338671
rs80338671
0.800 CausalMutation CLINVAR Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. 8613547

1996

dbSNP: rs80338672
rs80338672
0.800 CausalMutation CLINVAR Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. 8613547

1996

dbSNP: rs80338672
rs80338672
0.800 GeneticVariation UNIPROT Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. 8613547

1996

dbSNP: rs137852888
rs137852888
0.700 CausalMutation CLINVAR Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). 15452297

2005

dbSNP: rs137852889
rs137852889
0.700 GeneticVariation UNIPROT Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). 15452297

2005

dbSNP: rs137852891
rs137852891
0.700 GeneticVariation UNIPROT Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). 15452297

2005

dbSNP: rs137852886
rs137852886
0.700 GeneticVariation UNIPROT Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. 8613547

1996

dbSNP: rs137852888
rs137852888
0.700 CausalMutation CLINVAR Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. 8613547

1996

dbSNP: rs80338673
rs80338673
0.700 GeneticVariation UNIPROT