Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72559722
rs72559722
ABCC8
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		A 0.700 GeneticVariation CLINVAR Efficacy and safety of long-term, continuous subcutaneous octreotide infusion for patients with different subtypes of KATP-channel hyperinsulinism. 23067144

2013
dbSNP: rs72559722
rs72559722
ABCC8
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		A 0.700 GeneticVariation CLINVAR Characterization of ABCC8 and KCNJ11 gene mutations and phenotypes in Korean patients with congenital hyperinsulinism. 21422196

2011
dbSNP: rs72559722
rs72559722
ABCC8
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		A 0.700 GeneticVariation CLINVAR Genotype-phenotype associations in patients with severe hyperinsulinism of infancy. 17378627

2007
dbSNP: rs72559722
rs72559722
ABCC8
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		A 0.700 GeneticVariation CLINVAR Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity. 15579781

2004
dbSNP: rs72559722
rs72559722
ABCC8
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		A 0.700 GeneticVariation CLINVAR Molecular biology of adenosine triphosphate-sensitive potassium channels. 10204114

1999