Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28938469
rs28938469
ABCC8
0.800 GeneticVariation UNIPROT Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism. 24814349

2015
dbSNP: rs28938469
rs28938469
ABCC8
0.800 GeneticVariation UNIPROT Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture. 25720052

2015
dbSNP: rs28938469
rs28938469
ABCC8
A 0.800 GeneticVariation CLINVAR ABCC8 R1420H Loss-of-Function Variant in a Southwest American Indian Community: Association With Increased Birth Weight and Doubled Risk of Type 2 Diabetes. 26246406

2015
dbSNP: rs28938469
rs28938469
ABCC8
A 0.800 CausalMutation CLINVAR Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. 23275527

2013
dbSNP: rs28938469
rs28938469
ABCC8
A 0.800 CausalMutation CLINVAR Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. 23345197

2013
dbSNP: rs28938469
rs28938469
ABCC8
A 0.800 GeneticVariation CLINVAR Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. 23345197

2013
dbSNP: rs28938469
rs28938469
ABCC8
A 0.800 GeneticVariation CLINVAR Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. 23275527

2013
dbSNP: rs28938469
rs28938469
ABCC8
A 0.800 CausalMutation CLINVAR ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism. 20685672

2010
dbSNP: rs28938469
rs28938469
ABCC8
A 0.800 GeneticVariation CLINVAR ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism. 20685672

2010
dbSNP: rs28938469
rs28938469
ABCC8
A 0.800 GeneticVariation CLINVAR Genotype-phenotype associations in patients with severe hyperinsulinism of infancy. 17378627

2007
dbSNP: rs28938469
rs28938469
ABCC8
0.800 GeneticVariation UNIPROT Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI). 16429405

2006
dbSNP: rs28938469
rs28938469
ABCC8
0.800 GeneticVariation UNIPROT Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism. 16357843

2006
dbSNP: rs28938469
rs28938469
ABCC8
0.800 GeneticVariation UNIPROT Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes. 15562009

2005
dbSNP: rs28938469
rs28938469
ABCC8
0.800 GeneticVariation UNIPROT Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity. 15579781

2004
dbSNP: rs28938469
rs28938469
ABCC8
0.800 GeneticVariation UNIPROT Clinical and molecular characterization of a dominant form of congenital hyperinsulinism caused by a mutation in the high-affinity sulfonylurea receptor. 12941782

2003
dbSNP: rs28938469
rs28938469
ABCC8
A 0.800 GeneticVariation CLINVAR Potassium channel regulation. 14593442

2003
dbSNP: rs28938469
rs28938469
ABCC8
0.800 GeneticVariation UNIPROT Identification of a familial hyperinsulinism-causing mutation in the sulfonylurea receptor 1 that prevents normal trafficking and function of KATP channels. 11867634

2002
dbSNP: rs28938469
rs28938469
ABCC8
0.800 GeneticVariation UNIPROT Acute insulin response tests for the differential diagnosis of congenital hyperinsulinism. 12364426

2002
dbSNP: rs28938469
rs28938469
ABCC8
0.800 GeneticVariation UNIPROT Defective trafficking and function of KATP channels caused by a sulfonylurea receptor 1 mutation associated with persistent hyperinsulinemic hypoglycemia of infancy. 11226335

2001
dbSNP: rs28938469
rs28938469
ABCC8
A 0.800 CausalMutation CLINVAR Genetic analysis of Japanese patients with persistent hyperinsulinemic hypoglycemia of infancy: nucleotide-binding fold-2 mutation impairs cooperative binding of adenine nucleotides to sulfonylurea receptor 1. 10615958

2000
dbSNP: rs28938469
rs28938469
ABCC8
A 0.800 GeneticVariation CLINVAR Genetic analysis of Japanese patients with persistent hyperinsulinemic hypoglycemia of infancy: nucleotide-binding fold-2 mutation impairs cooperative binding of adenine nucleotides to sulfonylurea receptor 1. 10615958

2000
dbSNP: rs28938469
rs28938469
ABCC8
A 0.800 CausalMutation CLINVAR Functional analysis of a mutant sulfonylurea receptor, SUR1-R1420C, that is responsible for persistent hyperinsulinemic hypoglycemia of infancy. 10993895

2000
dbSNP: rs28938469
rs28938469
ABCC8
0.800 GeneticVariation UNIPROT Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1. 11018078

2000
dbSNP: rs28938469
rs28938469
ABCC8
A 0.800 GeneticVariation CLINVAR Functional analysis of a mutant sulfonylurea receptor, SUR1-R1420C, that is responsible for persistent hyperinsulinemic hypoglycemia of infancy. 10993895

2000
dbSNP: rs28938469
rs28938469
ABCC8
0.800 GeneticVariation UNIPROT Genetic analysis of Japanese patients with persistent hyperinsulinemic hypoglycemia of infancy: nucleotide-binding fold-2 mutation impairs cooperative binding of adenine nucleotides to sulfonylurea receptor 1. 10615958

2000