Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72559716
rs72559716
ABCC8
T 0.700 CausalMutation CLINVAR Paternally inherited ABCC8 mutation causing diffuse congenital hyperinsulinism. 24616771

2013
dbSNP: rs72559716
rs72559716
ABCC8
T 0.700 CausalMutation CLINVAR Role of Hsp90 in biogenesis of the beta-cell ATP-sensitive potassium channel complex. 20427569

2010
dbSNP: rs72559716
rs72559716
ABCC8
T 0.700 CausalMutation CLINVAR ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism. 20685672

2010
dbSNP: rs72559716
rs72559716
ABCC8
T 0.700 CausalMutation CLINVAR Case report: pathological features of aberrant pancreatic development in congenital hyperinsulinism due to ABCC8 mutations. 18988933

2008
dbSNP: rs72559716
rs72559716
ABCC8
T 0.700 CausalMutation CLINVAR Complex ABCC8 DNA variations in congenital hyperinsulinism: lessons from functional studies. 17466004

2007
dbSNP: rs72559716
rs72559716
ABCC8
T 0.700 CausalMutation CLINVAR Genotype-phenotype associations in patients with severe hyperinsulinism of infancy. 17378627

2007
dbSNP: rs72559716
rs72559716
ABCC8
T 0.700 CausalMutation CLINVAR Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes. 15562009

2005