Gene: ABCC8 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852676
rs137852676
ABCC8
T 0.700 GeneticVariation CLINVAR The spectrum of ABCC8 mutations in Norwegian patients with congenital hyperinsulinism of infancy. 19475716

2009
dbSNP: rs137852676
rs137852676
ABCC8
T 0.700 GeneticVariation CLINVAR Genotype-phenotype associations in patients with severe hyperinsulinism of infancy. 17378627

2007
dbSNP: rs137852676
rs137852676
ABCC8
T 0.700 GeneticVariation CLINVAR Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism. 16357843

2006
dbSNP: rs137852676
rs137852676
ABCC8
T 0.700 GeneticVariation CLINVAR A universally conserved residue in the SUR1 subunit of the KATP channel is essential for translating nucleotide binding at SUR1 into channel opening. 22802590

2012
dbSNP: rs137852676
rs137852676
ABCC8
T 0.700 GeneticVariation 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: rs1382448285
rs1382448285
ABCC8
T 0.700 GeneticVariation CLINVAR Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. 23275527

2013
dbSNP: rs1382448285
rs1382448285
ABCC8
T 0.700 GeneticVariation CLINVAR Novel ABCC8 (SUR1) gene mutations in Asian Indian children with congenital hyperinsulinemic hypoglycemia. 25117148

2014
dbSNP: rs149331388
rs149331388
ABCC8
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1554923999
rs1554923999
ABCC8
A 0.700 GeneticVariation CLINVAR Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. 23275527

2013
dbSNP: rs1554923999
rs1554923999
ABCC8
A 0.700 GeneticVariation CLINVAR Genetic characteristics and long-term follow-up of 11 patients with congenital hyperinsulinism followed in a single center. 27682711

2016
dbSNP: rs1564890766
rs1564890766
ABCC8
C 0.700 GeneticVariation CLINVAR

dbSNP: rs193922402
rs193922402
ABCC8
A 0.700 GeneticVariation CLINVAR Evaluation of [18F]fluoro-L-DOPA positron emission tomography-computed tomography for surgery in focal congenital hyperinsulinism. 18073294

2008
dbSNP: rs193922402
rs193922402
ABCC8
A 0.700 GeneticVariation CLINVAR Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. 23345197

2013
dbSNP: rs193922402
rs193922402
ABCC8
A 0.700 GeneticVariation CLINVAR In vitro recovery of ATP-sensitive potassium channels in β-cells from patients with congenital hyperinsulinism of infancy. 21411514

2011
dbSNP: rs28936371
rs28936371
ABCC8
A 0.700 GeneticVariation CLINVAR Spectrophotometric determination of quinine, emethine and ephedrine in pharmaceutical preparations with tetrabromophenolphthalein ethyl ester by solvent extraction. 1021286

1976
dbSNP: rs28936371
rs28936371
ABCC8
A 0.700 GeneticVariation CLINVAR Genotype-phenotype associations in patients with severe hyperinsulinism of infancy. 17378627

2007
dbSNP: rs28936371
rs28936371
ABCC8
A 0.700 GeneticVariation CLINVAR Clinical features of 52 neonates with hyperinsulinism. 10202168

1999
dbSNP: rs28936371
rs28936371
ABCC8
A 0.700 GeneticVariation CLINVAR Familial focal congenital hyperinsulinism. 20943779

2011
dbSNP: rs28936371
rs28936371
ABCC8
A 0.700 GeneticVariation CLINVAR Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity. 15579781

2004
dbSNP: rs28936371
rs28936371
ABCC8
A 0.700 GeneticVariation CLINVAR Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism. 18767144

2009
dbSNP: rs368114790
rs368114790
ABCC8
T 0.700 GeneticVariation CLINVAR The contribution of rapid KATP channel gene mutation analysis to the clinical management of children with congenital hyperinsulinism. 21378087

2011
dbSNP: rs368114790
rs368114790
ABCC8
T 0.700 GeneticVariation CLINVAR GLP-1 receptor antagonist exendin-(9-39) elevates fasting blood glucose levels in congenital hyperinsulinism owing to inactivating mutations in the ATP-sensitive K+ channel. 22855730

2012
dbSNP: rs368114790
rs368114790
ABCC8
T 0.700 GeneticVariation CLINVAR Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. 23275527

2013
dbSNP: rs541269678
rs541269678
ABCC8
A 0.700 GeneticVariation CLINVAR ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism. 20685672

2010
dbSNP: rs541269678
rs541269678
ABCC8
A 0.700 GeneticVariation CLINVAR Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism. 16357843

2006