Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs139964066
rs139964066
ABCC8
A 0.700 CausalMutation CLINVAR A novel case of compound heterozygous congenital hyperinsulinism without high insulin levels. 26180531

2015
dbSNP: rs139964066
rs139964066
ABCC8
A 0.700 CausalMutation CLINVAR Characterization of the ABCC8 gene mutation and phenotype in patients with congenital hyperinsulinism in western Saudi Arabia. 24145932

2013
dbSNP: rs139964066
rs139964066
ABCC8
A 0.700 CausalMutation CLINVAR Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. 23345197

2013
dbSNP: rs139964066
rs139964066
ABCC8
A 0.700 CausalMutation CLINVAR Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. 23275527

2013
dbSNP: rs139964066
rs139964066
ABCC8
A 0.700 CausalMutation CLINVAR Prenatal diagnosis and postnatal management of diffuse congenital hyperinsulinism: a case report. 16969006

2006
dbSNP: rs139964066
rs139964066
ABCC8
A 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