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: rs886041392
rs886041392
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931832
Disease:
Hyperinsulinemic hypoglycemia, familial, 1 		G 0.700 GeneticVariation CLINVAR Clinical and genetic evaluation of patients with KATP channel mutations from the German registry for congenital hyperinsulinism. 24401662 2014
dbSNP: rs886041392
rs886041392
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931832
Disease:
Hyperinsulinemic hypoglycemia, familial, 1 		G 0.700 GeneticVariation CLINVAR Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI). 16429405 2006
dbSNP: rs886041392
rs886041392
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931832
Disease:
Hyperinsulinemic hypoglycemia, familial, 1 		G 0.700 GeneticVariation CLINVAR Unbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism: association with a reduction to homozygosity of a mutation in ABCC8 or KCNJ11. 11395395 2001
dbSNP: rs886041392
rs886041392
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931832
Disease:
Hyperinsulinemic hypoglycemia, familial, 1 		G 0.700 CausalMutation CLINVAR