Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs751279984
rs751279984
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		A 0.700 GeneticVariation CLINVAR Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time. 27908292

2016
dbSNP: rs751279984
rs751279984
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		A 0.700 GeneticVariation CLINVAR Congenital hyperinsulinism: clinical and molecular characterisation of compound heterozygous ABCC8 mutation responsive to Diazoxide therapy. 25584046

2014
dbSNP: rs751279984
rs751279984
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		A 0.700 GeneticVariation CLINVAR Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. 23275527

2013
dbSNP: rs751279984
rs751279984
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		A 0.700 GeneticVariation CLINVAR Genetic analysis of Italian patients with congenital hyperinsulinism of infancy. 23652837

2013
dbSNP: rs751279984
rs751279984
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		A 0.700 GeneticVariation CLINVAR Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. 23345197

2013