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

2015
dbSNP: rs1057516317
rs1057516317
ABCC8
T 0.700 CausalMutation CLINVAR Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. 23275527

2013
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 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: 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: rs72559716
rs72559716
ABCC8
T 0.700 CausalMutation CLINVAR Paternally inherited ABCC8 mutation causing diffuse congenital hyperinsulinism. 24616771

2013
dbSNP: rs72559734
rs72559734
ABCC8
T 0.700 CausalMutation CLINVAR Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. 23345197

2013
dbSNP: rs72559734
rs72559734
ABCC8
T 0.700 CausalMutation CLINVAR Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. 23275527

2013
dbSNP: rs863225280
rs863225280
ABCC8
T 0.700 CausalMutation CLINVAR Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. 23275527

2013
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: rs1057516317
rs1057516317
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 ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism. 20685672

2010
dbSNP: rs72559716
rs72559716
ABCC8
T 0.700 CausalMutation CLINVAR Role of Hsp90 in biogenesis of the beta-cell ATP-sensitive potassium channel complex. 20427569

2010
dbSNP: rs72559716
rs72559716
ABCC8
T 0.700 CausalMutation CLINVAR ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism. 20685672

2010
dbSNP: rs72559734
rs72559734
ABCC8
T 0.700 CausalMutation CLINVAR ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism. 20685672

2010
dbSNP: rs863225280
rs863225280
ABCC8
T 0.700 CausalMutation CLINVAR ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism. 20685672

2010
dbSNP: rs72559716
rs72559716
ABCC8
T 0.700 CausalMutation CLINVAR Case report: pathological features of aberrant pancreatic development in congenital hyperinsulinism due to ABCC8 mutations. 18988933

2008
dbSNP: rs1057516317
rs1057516317
ABCC8
T 0.700 CausalMutation CLINVAR Genotype-phenotype associations in patients with severe hyperinsulinism of infancy. 17378627

2007