Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797045213
rs797045213
ABCC8
C 0.800 GeneticVariation CLINVAR Congenital hyperinsulinism in Chinese patients: 5-yr treatment outcome of 95 clinical cases with genetic analysis of 55 cases. 25639667

2016
dbSNP: rs797045213
rs797045213
ABCC8
C 0.800 GeneticVariation CLINVAR Clinical characteristics and phenotype-genotype analysis in Turkish patients with congenital hyperinsulinism; predominance of recessive KATP channel mutations. 24686051

2014
dbSNP: rs797045213
rs797045213
ABCC8
C 0.800 GeneticVariation CLINVAR Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. 23275527

2013
dbSNP: rs797045213
rs797045213
ABCC8
C 0.800 GeneticVariation CLINVAR Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI). 16429405

2006
dbSNP: rs797045213
rs797045213
ABCC8
C 0.800 GeneticVariation CLINVAR Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes. 15562009

2005
dbSNP: rs797045213
rs797045213
ABCC8
C 0.800 GeneticVariation CLINVAR Genetic heterogeneity in familial hyperinsulinism. 9618169

1998
dbSNP: rs797045213
rs797045213
ABCC8
C 0.800 GeneticVariation CLINVAR Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy. 9648840

1998
dbSNP: rs797045213
rs797045213
ABCC8
C 0.800 CausalMutation CLINVAR

dbSNP: rs797045213
rs797045213
ABCC8
0.800 GeneticVariation UNIPROT