Gene: ABCC8 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs149331388
rs149331388
ABCC8
T 0.700 GeneticVariation CLINVAR

dbSNP: rs151344623
rs151344623
ABCC8
T 0.700 CausalMutation CLINVAR

dbSNP: rs1564890766
rs1564890766
ABCC8
C 0.700 GeneticVariation CLINVAR

dbSNP: rs193922402
rs193922402
ABCC8
A 0.700 CausalMutation CLINVAR

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: rs367850779
rs367850779
ABCC8
T 0.700 CausalMutation CLINVAR Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy. 9648840

1998
dbSNP: rs367850779
rs367850779
ABCC8
T 0.700 CausalMutation CLINVAR Genetic heterogeneity in familial hyperinsulinism. 9618169

1998
dbSNP: rs541269678
rs541269678
ABCC8
A 0.700 GeneticVariation CLINVAR Genetic heterogeneity in familial hyperinsulinism. 9618169

1998
dbSNP: rs28936371
rs28936371
ABCC8
A 0.700 GeneticVariation CLINVAR Clinical features of 52 neonates with hyperinsulinism. 10202168

1999
dbSNP: rs541269678
rs541269678
ABCC8
A 0.700 GeneticVariation CLINVAR Congenital hyperinsulinism: molecular basis of a heterogeneous disease. 10338089

1999
dbSNP: rs72559713
rs72559713
ABCC8
G 0.700 GeneticVariation CLINVAR Molecular biology of adenosine triphosphate-sensitive potassium channels. 10204114

1999
dbSNP: rs72559722
rs72559722
ABCC8
A 0.700 GeneticVariation CLINVAR Molecular biology of adenosine triphosphate-sensitive potassium channels. 10204114

1999
dbSNP: rs367850779
rs367850779
ABCC8
T 0.700 CausalMutation CLINVAR Hyperinsulinism of infancy: towards an understanding of unregulated insulin release. European Network for Research into Hyperinsulinism in Infancy. 10685980

2000
dbSNP: rs541269678
rs541269678
ABCC8
A 0.700 GeneticVariation CLINVAR Hyperinsulinism of infancy: towards an understanding of unregulated insulin release. European Network for Research into Hyperinsulinism in Infancy. 10685980

2000
dbSNP: rs72559716
rs72559716
ABCC8
T 0.700 GeneticVariation CLINVAR Familial hyperinsulinism and pancreatic beta-cell ATP-sensitive potassium channels. 10720932

2000
dbSNP: rs72559713
rs72559713
ABCC8
G 0.700 GeneticVariation CLINVAR Identification of a familial hyperinsulinism-causing mutation in the sulfonylurea receptor 1 that prevents normal trafficking and function of KATP channels. 11867634

2002
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: 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: rs367850779
rs367850779
ABCC8
T 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: rs367850779
rs367850779
ABCC8
T 0.700 CausalMutation CLINVAR Histopathology of congenital hyperinsulinism: retrospective study with genotype correlations. 14692646

2004
dbSNP: rs541269678
rs541269678
ABCC8
A 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: rs72559716
rs72559716
ABCC8
T 0.700 GeneticVariation CLINVAR Acute insulin responses to calcium and tolbutamide do not differentiate focal from diffuse congenital hyperinsulinism. 14764815

2004
dbSNP: rs72559722
rs72559722
ABCC8
A 0.700 GeneticVariation CLINVAR Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity. 15579781

2004
dbSNP: rs72559713
rs72559713
ABCC8
G 0.700 GeneticVariation CLINVAR Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes. 15562009

2005
dbSNP: rs72559716
rs72559716
ABCC8
T 0.700 GeneticVariation CLINVAR Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes. 15562009

2005