Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72559716
rs72559716
ABCC8
T 0.800 CausalMutation CLINVAR Paternally inherited ABCC8 mutation causing diffuse congenital hyperinsulinism. 24616771

2013
dbSNP: rs72559716
rs72559716
ABCC8
0.800 GeneticVariation UNIPROT Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism. 24814349

2015
dbSNP: rs72559716
rs72559716
ABCC8
0.800 GeneticVariation UNIPROT Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture. 25720052

2015
dbSNP: rs72559716
rs72559716
ABCC8
T 0.800 CausalMutation CLINVAR Analysis on the pathogenic genes of 60 Chinese children with congenital hyperinsulinemia. 30352420

2018