Gene: ABCC8 ×
Source: CLINVAR ×
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 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 Genotype-phenotype associations in patients with severe hyperinsulinism of infancy. 17378627

2007
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 Paternally inherited ABCC8 mutation causing diffuse congenital hyperinsulinism. 24616771

2013
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: rs72559734
rs72559734
ABCC8
T 0.700 CausalMutation CLINVAR Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. 23345197

2013
dbSNP: rs72559734
rs72559734
ABCC8
T 0.700 CausalMutation CLINVAR Genetic heterogeneity in familial hyperinsulinism. 9618169

1998
dbSNP: rs72559734
rs72559734
ABCC8
T 0.700 CausalMutation CLINVAR ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism. 20685672

2010
dbSNP: rs72559734
rs72559734
ABCC8
T 0.700 CausalMutation CLINVAR Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. 23275527

2013
dbSNP: rs863225280
rs863225280
ABCC8
T 0.700 CausalMutation CLINVAR Genotype-phenotype associations in patients with severe hyperinsulinism of infancy. 17378627

2007
dbSNP: rs863225280
rs863225280
ABCC8
T 0.700 CausalMutation CLINVAR Complex ABCC8 DNA variations in congenital hyperinsulinism: lessons from functional studies. 17466004

2007
dbSNP: rs863225280
rs863225280
ABCC8
T 0.700 CausalMutation CLINVAR Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. 23275527

2013
dbSNP: rs863225280
rs863225280
ABCC8
T 0.700 CausalMutation CLINVAR Serum glucagon counterregulatory hormonal response to hypoglycemia is blunted in congenital hyperinsulinism. 16186397

2005
dbSNP: rs863225280
rs863225280
ABCC8
T 0.700 CausalMutation CLINVAR ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism. 20685672

2010
dbSNP: rs863225280
rs863225280
ABCC8
T 0.700 CausalMutation CLINVAR Acute insulin responses to calcium and tolbutamide do not differentiate focal from diffuse congenital hyperinsulinism. 14764815

2004