Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057517420
rs1057517420
ABCC8
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism 		G 0.700 CausalMutation CLINVAR Genotype and phenotype correlations in 417 children with congenital hyperinsulinism. 23275527

2013