Gene: ABCC8 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057516281
rs1057516281
ABCC8
A 0.700 CausalMutation CLINVAR Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI). 16429405

2006
dbSNP: rs1057516281
rs1057516281
ABCC8
A 0.700 CausalMutation CLINVAR Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. 23275527

2013
dbSNP: rs1057516281
rs1057516281
ABCC8
A 0.700 CausalMutation CLINVAR Glucose intolerance and diabetes are observed in the long-term follow-up of nonpancreatectomized patients with persistent hyperinsulinemic hypoglycemia of infancy due to mutations in the ABCC8 gene. 18339976

2008
dbSNP: rs1057516281
rs1057516281
ABCC8
A 0.700 CausalMutation CLINVAR Molecular and clinical analysis of Japanese patients with persistent congenital hyperinsulinism: predominance of paternally inherited monoallelic mutations in the KATP channel genes. 20943781

2011
dbSNP: rs1057516281
rs1057516281
ABCC8
A 0.700 CausalMutation CLINVAR Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. 23345197

2013
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: rs151344623
rs151344623
ABCC8
T 0.700 CausalMutation 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: rs1564977373
rs1564977373
ABCC8
T 0.700 CausalMutation CLINVAR Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. 23275527

2013
dbSNP: rs1564977373
rs1564977373
ABCC8
T 0.700 CausalMutation CLINVAR Congenital hyperinsulinism. 25323548

2014
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 CausalMutation CLINVAR

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