Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852886
rs137852886
0.800 GeneticVariation UNIPROT A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy. 10545044

1999

dbSNP: rs137852886
rs137852886
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: rs137852886
rs137852886
0.800 GeneticVariation UNIPROT Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). 15452297

2004

dbSNP: rs137852887
rs137852887
0.800 GeneticVariation UNIPROT A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy. 10545044

1999

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: rs137852887
rs137852887
0.800 GeneticVariation UNIPROT Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). 15452297

2004

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

2004

dbSNP: rs137852889
rs137852889
0.800 GeneticVariation UNIPROT A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy. 10545044

1999

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

2004

dbSNP: rs137852891
rs137852891
0.700 GeneticVariation UNIPROT A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy. 10545044

1999

dbSNP: rs137852891
rs137852891
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