Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338671
rs80338671
0.700 GeneticVariation UNIPROT Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design. 26199317

2016

dbSNP: rs137852892
rs137852892
0.700 CausalMutation CLINVAR Non-lethal congenital hypotonia due to glycogen storage disease type IV. 16528737

2009

dbSNP: rs137852893
rs137852893
0.700 CausalMutation CLINVAR Non-lethal congenital hypotonia due to glycogen storage disease type IV. 16528737

2009

dbSNP: rs137852894
rs137852894
0.700 CausalMutation CLINVAR Null mutations and lethal congenital form of glycogen storage disease type IV. 17662246

2007

dbSNP: rs397515344
rs397515344
0.700 CausalMutation CLINVAR Null mutations and lethal congenital form of glycogen storage disease type IV. 17662246

2007

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

2005

dbSNP: rs137852890
rs137852890
0.700 CausalMutation CLINVAR 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: rs137852887
rs137852887
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: rs397515342
rs397515342
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: rs80338671
rs80338671
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: rs80338672
rs80338672
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: rs397515342
rs397515342
0.700 CausalMutation CLINVAR Neonatal hypotonia and cardiomyopathy secondary to type IV glycogenosis. 8059607

1994

dbSNP: rs80338673
rs80338673
0.700 GeneticVariation UNIPROT