Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1048095
rs1048095
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL
0.810 GeneticVariation UNIPROT Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects. 17668386 2007
dbSNP: rs1048095
rs1048095
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL
0.810 GeneticVariation UNIPROT Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers. 17213273 2007
dbSNP: rs1048095
rs1048095
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL
0.810 GeneticVariation BEFREE A mutation in the TMD0-L0 region of sulfonylurea receptor-1 (L225P) causes permanent neonatal diabetes mellitus (PNDM). 17317760 2007
dbSNP: rs1048095
rs1048095
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL
0.810 GeneticVariation UNIPROT Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. 16885549 2006
dbSNP: rs1048095
rs1048095
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL
0.810 GeneticVariation UNIPROT A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes. 16613899 2006
dbSNP: rs1048095
rs1048095
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL
G 0.810 CausalMutation CLINVAR
dbSNP: rs72559716
rs72559716
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931832
Disease:
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
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931832
Disease:
Hyperinsulinemic hypoglycemia, familial, 1
T 0.800 GeneticVariation CLINVAR Functional and Metabolomic Consequences of KATP Channel Inactivation in Human Islets. 28442472 2017
dbSNP: rs139964066
rs139964066
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931832
Disease:
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: rs200670692
rs200670692
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931832
Disease:
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: rs372307320
rs372307320
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931832
Disease:
Hyperinsulinemic hypoglycemia, familial, 1
T 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
dbSNP: rs72559734
rs72559734
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931832
Disease:
Hyperinsulinemic hypoglycemia, familial, 1
T 0.800 GeneticVariation CLINVAR Clinical whole exome sequencing in early onset diabetes patients. 27810688 2016
dbSNP: rs797045213
rs797045213
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931832
Disease:
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
dbSNP: rs137852671
rs137852671
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931832
Disease:
Hyperinsulinemic hypoglycemia, familial, 1
0.800 GeneticVariation UNIPROT Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism. 24814349 2015
dbSNP: rs137852671
rs137852671
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931832
Disease:
Hyperinsulinemic hypoglycemia, familial, 1
0.800 GeneticVariation UNIPROT Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture. 25720052 2015
dbSNP: rs137852672
rs137852672
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931832
Disease:
Hyperinsulinemic hypoglycemia, familial, 1
0.800 GeneticVariation UNIPROT Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism. 24814349 2015
dbSNP: rs137852672
rs137852672
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931832
Disease:
Hyperinsulinemic hypoglycemia, familial, 1
0.800 GeneticVariation UNIPROT Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture. 25720052 2015
dbSNP: rs139964066
rs139964066
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931832
Disease:
Hyperinsulinemic hypoglycemia, familial, 1
0.800 GeneticVariation UNIPROT Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture. 25720052 2015
dbSNP: rs139964066
rs139964066
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931832
Disease:
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
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931832
Disease:
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: rs139964066
rs139964066
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931832
Disease:
Hyperinsulinemic hypoglycemia, familial, 1
0.800 GeneticVariation UNIPROT Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism. 24814349 2015
dbSNP: rs1446306735
rs1446306735
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931832
Disease:
Hyperinsulinemic hypoglycemia, familial, 1
0.800 GeneticVariation UNIPROT Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture. 25720052 2015
dbSNP: rs1446306735
rs1446306735
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931832
Disease:
Hyperinsulinemic hypoglycemia, familial, 1
0.800 GeneticVariation UNIPROT Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism. 24814349 2015
dbSNP: rs1446306735
rs1446306735
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931832
Disease:
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: rs1554933168
rs1554933168
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C2931832
Disease:
Hyperinsulinemic hypoglycemia, familial, 1
0.800 GeneticVariation UNIPROT Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture. 25720052 2015