Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1260178539
rs1260178539
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931832
Disease:
Hyperinsulinemic hypoglycemia, familial, 1
G 0.700 CausalMutation CLINVAR Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. 23275527 2013