Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1382448285
rs1382448285
ABCC8
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		T 0.700 GeneticVariation CLINVAR Novel ABCC8 (SUR1) gene mutations in Asian Indian children with congenital hyperinsulinemic hypoglycemia. 25117148

2014
dbSNP: rs1382448285
rs1382448285
ABCC8
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		T 0.700 GeneticVariation CLINVAR Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. 23275527

2013