Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72559716
rs72559716
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		T 0.800 CausalMutation CLINVAR Analysis on the pathogenic genes of 60 Chinese children with congenital hyperinsulinemia. 30352420

2018
dbSNP: rs372307320
rs372307320
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		T 0.800 GeneticVariation CLINVAR Functional and Metabolomic Consequences of KATP Channel Inactivation in Human Islets. 28442472

2017
dbSNP: rs751279984
rs751279984
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		A 0.700 GeneticVariation CLINVAR Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time. 27908292

2016
dbSNP: rs746714109
rs746714109
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		T 0.700 GeneticVariation CLINVAR Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time. 27908292

2016
dbSNP: rs1554923999
rs1554923999
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		T 0.700 GeneticVariation CLINVAR Neonatal Diabetes: A Case Series. 27889714

2017
dbSNP: rs72559734
rs72559734
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		T 0.800 GeneticVariation CLINVAR Clinical whole exome sequencing in early onset diabetes patients. 27810688

2016
dbSNP: rs765090096
rs765090096
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		C 0.700 GeneticVariation CLINVAR mTOR Inhibitors for the Treatment of Severe Congenital Hyperinsulinism: Perspectives on Limited Therapeutic Success. 27691052

2016
dbSNP: rs139964066
rs139964066
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		A 0.800 GeneticVariation CLINVAR Genetic characteristics and long-term follow-up of 11 patients with congenital hyperinsulinism followed in a single center. 27682711

2016
dbSNP: rs1554923999
rs1554923999
ABCC8
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		A 0.700 GeneticVariation CLINVAR Genetic characteristics and long-term follow-up of 11 patients with congenital hyperinsulinism followed in a single center. 27682711

2016
dbSNP: rs1554923999
rs1554923999
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		A 0.700 GeneticVariation CLINVAR Genetic characteristics and long-term follow-up of 11 patients with congenital hyperinsulinism followed in a single center. 27682711

2016
dbSNP: rs200670692
rs200670692
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		T 0.800 GeneticVariation CLINVAR Pharmacological Correction of Trafficking Defects in ATP-sensitive Potassium Channels Caused by Sulfonylurea Receptor 1 Mutations. 27573238

2016
dbSNP: rs200670692
rs200670692
ABCC8
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism 		T 0.700 CausalMutation CLINVAR Pharmacological Correction of Trafficking Defects in ATP-sensitive Potassium Channels Caused by Sulfonylurea Receptor 1 Mutations. 27573238

2016
dbSNP: rs1057516317
rs1057516317
ABCC8
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism 		T 0.700 CausalMutation CLINVAR Clinical and genetic characterization of congenital hyperinsulinism in Spain. 27188453

2016
dbSNP: rs201682634
rs201682634
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		A 0.800 GeneticVariation CLINVAR Uncovering the molecular pathogenesis of congenital hyperinsulinism by panel gene sequencing in 32 Chinese patients. 26740944

2015
dbSNP: rs1057517139
rs1057517139
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		T 0.700 GeneticVariation CLINVAR Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndrome. 26545876

2016
dbSNP: rs746714109
rs746714109
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		T 0.700 GeneticVariation CLINVAR Genotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia. 26268944

2015
dbSNP: rs28938469
rs28938469
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		A 0.800 GeneticVariation CLINVAR ABCC8 R1420H Loss-of-Function Variant in a Southwest American Indian Community: Association With Increased Birth Weight and Doubled Risk of Type 2 Diabetes. 26246406

2015
dbSNP: rs139964066
rs139964066
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		A 0.800 GeneticVariation CLINVAR A novel case of compound heterozygous congenital hyperinsulinism without high insulin levels. 26180531

2015
dbSNP: rs139964066
rs139964066
ABCC8
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism 		A 0.700 CausalMutation CLINVAR A novel case of compound heterozygous congenital hyperinsulinism without high insulin levels. 26180531

2015
dbSNP: rs773306994
rs773306994
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		A 0.700 CausalMutation CLINVAR Altered Phenotype of β-Cells and Other Pancreatic Cell Lineages in Patients With Diffuse Congenital Hyperinsulinism in Infancy Caused by Mutations in the ATP-Sensitive K-Channel. 25931474

2015
dbSNP: rs139964066
rs139964066
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		A 0.800 GeneticVariation CLINVAR Sulfonylurea in the treatment of neonatal diabetes mellitus children with heterogeneous genetic backgrounds. 25781672

2015
dbSNP: rs746714109
rs746714109
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		T 0.700 GeneticVariation CLINVAR Three novel pathogenic mutations in KATP channel genes and somatic imprinting alterations of the 11p15 region in pancreatic tissue in patients with congenital hyperinsulinism. 25765446

2015
dbSNP: rs1554904136
rs1554904136
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		C 0.700 GeneticVariation CLINVAR Three novel pathogenic mutations in KATP channel genes and somatic imprinting alterations of the 11p15 region in pancreatic tissue in patients with congenital hyperinsulinism. 25765446

2015
dbSNP: rs1446306735
rs1446306735
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		T 0.800 GeneticVariation CLINVAR Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture. 25720052

2015
dbSNP: rs797045213
rs797045213
ABCC8
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		C 0.800 GeneticVariation CLINVAR Congenital hyperinsulinism in Chinese patients: 5-yr treatment outcome of 95 clinical cases with genetic analysis of 55 cases. 25639667

2016