Gene: ABCC8 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057516317
rs1057516317
ABCC8
T 0.700 CausalMutation CLINVAR Clinical and genetic characterization of congenital hyperinsulinism in Spain. 27188453

2016
dbSNP: rs1057516317
rs1057516317
ABCC8
T 0.700 CausalMutation CLINVAR Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. 23275527

2013
dbSNP: rs1057516317
rs1057516317
ABCC8
T 0.700 CausalMutation CLINVAR Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI). 16429405

2006
dbSNP: rs1057516317
rs1057516317
ABCC8
T 0.700 CausalMutation CLINVAR ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism. 20685672

2010
dbSNP: rs1057516317
rs1057516317
ABCC8
T 0.700 CausalMutation CLINVAR Genotype-phenotype associations in patients with severe hyperinsulinism of infancy. 17378627

2007
dbSNP: rs1057517420
rs1057517420
ABCC8
G 0.700 CausalMutation CLINVAR Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. 23275527

2013
dbSNP: rs139964066
rs139964066
ABCC8
A 0.700 CausalMutation CLINVAR Preoperative evaluation of infants with focal or diffuse congenital hyperinsulinism by intravenous acute insulin response tests and selective pancreatic arterial calcium stimulation. 14715863

2004
dbSNP: rs139964066
rs139964066
ABCC8
A 0.700 CausalMutation CLINVAR Characterization of the ABCC8 gene mutation and phenotype in patients with congenital hyperinsulinism in western Saudi Arabia. 24145932

2013
dbSNP: rs139964066
rs139964066
ABCC8
A 0.700 CausalMutation CLINVAR Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. 23275527

2013
dbSNP: rs139964066
rs139964066
ABCC8
A 0.700 CausalMutation CLINVAR Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. 23345197

2013
dbSNP: rs139964066
rs139964066
ABCC8
A 0.700 CausalMutation CLINVAR A novel case of compound heterozygous congenital hyperinsulinism without high insulin levels. 26180531

2015
dbSNP: rs139964066
rs139964066
ABCC8
A 0.700 CausalMutation CLINVAR Prenatal diagnosis and postnatal management of diffuse congenital hyperinsulinism: a case report. 16969006

2006
dbSNP: rs151344623
rs151344623
ABCC8
T 0.700 CausalMutation CLINVAR Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity. 15579781

2004
dbSNP: rs151344623
rs151344623
ABCC8
T 0.700 CausalMutation CLINVAR Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy. 7716548

1995
dbSNP: rs151344623
rs151344623
ABCC8
T 0.700 CausalMutation CLINVAR Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews. 8923011

1996
dbSNP: rs151344623
rs151344623
ABCC8
T 0.700 CausalMutation CLINVAR ABCC8 mutation allele frequency in the Ashkenazi Jewish population and risk of focal hyperinsulinemic hypoglycemia. 21716120

2011
dbSNP: rs151344624
rs151344624
ABCC8
G 0.700 CausalMutation CLINVAR ABCC8 mutation allele frequency in the Ashkenazi Jewish population and risk of focal hyperinsulinemic hypoglycemia. 21716120

2011
dbSNP: rs151344624
rs151344624
ABCC8
G 0.700 CausalMutation CLINVAR Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews. 8923011

1996
dbSNP: rs200670692
rs200670692
ABCC8
T 0.700 CausalMutation CLINVAR Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. 23275527

2013
dbSNP: rs200670692
rs200670692
ABCC8
T 0.700 CausalMutation CLINVAR Efficacy and safety of long-term, continuous subcutaneous octreotide infusion for patients with different subtypes of KATP-channel hyperinsulinism. 23067144

2013
dbSNP: rs200670692
rs200670692
ABCC8
T 0.700 CausalMutation CLINVAR Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. 23345197

2013
dbSNP: rs200670692
rs200670692
ABCC8
T 0.700 CausalMutation CLINVAR ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism. 20685672

2010
dbSNP: rs200670692
rs200670692
ABCC8
T 0.700 CausalMutation CLINVAR Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism. 16357843

2006
dbSNP: rs200670692
rs200670692
ABCC8
T 0.700 CausalMutation CLINVAR Pharmacological Correction of Trafficking Defects in ATP-sensitive Potassium Channels Caused by Sulfonylurea Receptor 1 Mutations. 27573238

2016
dbSNP: rs72559716
rs72559716
ABCC8
T 0.700 CausalMutation CLINVAR Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes. 15562009

2005