Disease: Hyperinsulinemic hypoglycemia, familial, 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057517199
rs1057517199
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931832
Disease:
Hyperinsulinemic hypoglycemia, familial, 1 		GT 0.700 CausalMutation CLINVAR Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI). 16429405 2006