Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057516718
rs1057516718
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		A 0.700 GeneticVariation CLINVAR Clinical and genetic evaluation of patients with KATP channel mutations from the German registry for congenital hyperinsulinism. 24401662

2014
dbSNP: rs1057516718
rs1057516718
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		A 0.700 GeneticVariation CLINVAR Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. 23345197

2013