Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72559713
rs72559713
ABCC8
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		G 0.700 GeneticVariation CLINVAR Functional hot spots in human ATP-binding cassette transporter nucleotide binding domains. 20799350

2010
dbSNP: rs72559713
rs72559713
ABCC8
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		G 0.700 GeneticVariation CLINVAR Genotype-phenotype associations in patients with severe hyperinsulinism of infancy. 17378627

2007
dbSNP: rs72559713
rs72559713
ABCC8
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		G 0.700 GeneticVariation CLINVAR Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes. 15562009

2005
dbSNP: rs72559713
rs72559713
ABCC8
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		G 0.700 GeneticVariation CLINVAR Identification of a familial hyperinsulinism-causing mutation in the sulfonylurea receptor 1 that prevents normal trafficking and function of KATP channels. 11867634

2002
dbSNP: rs72559713
rs72559713
ABCC8
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		G 0.700 GeneticVariation CLINVAR Molecular biology of adenosine triphosphate-sensitive potassium channels. 10204114

1999