Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72559734
rs72559734
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		T 0.800 GeneticVariation CLINVAR Clinical whole exome sequencing in early onset diabetes patients. 27810688

2016
dbSNP: rs72559734
rs72559734
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		T 0.800 GeneticVariation CLINVAR Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. 23275527

2013
dbSNP: rs72559734
rs72559734
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		T 0.800 GeneticVariation CLINVAR Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. 23345197

2013
dbSNP: rs72559734
rs72559734
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		T 0.800 GeneticVariation CLINVAR Congenital hyperinsulinism caused by mutations in ABCC8 (SUR1) gene. 21992908

2011
dbSNP: rs72559734
rs72559734
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		T 0.800 GeneticVariation CLINVAR ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism. 20685672

2010
dbSNP: rs72559734
rs72559734
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		T 0.800 GeneticVariation CLINVAR Genetic heterogeneity in familial hyperinsulinism. 9618169

1998
dbSNP: rs72559734
rs72559734
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		T 0.800 CausalMutation CLINVAR