Gene: ABCC8 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs757110
rs757110
ABCC8
0.030 GeneticVariation BEFREE Replication of KCNJ11 (p.E23K) and ABCC8 (p.S1369A) Association in Russian Diabetes Mellitus 2 Type Cohort and Meta-Analysis. 25955821

2015
dbSNP: rs757110
rs757110
ABCC8
0.030 GeneticVariation BEFREE Our results provide evidence, at the single residue level, for a molecular mechanism that may underlie the association of the S1369A variant with type 2 diabetes. 26181369

2015
dbSNP: rs137852671
rs137852671
ABCC8
0.030 GeneticVariation BEFREE Dominantly inherited mutations cause less severe disease, which may progress to glucose intolerance and diabetes in later life (e.g., SUR1-E1506K). 23903354

2013
dbSNP: rs137852671
rs137852671
ABCC8
0.030 GeneticVariation BEFREE Our data corroborate the hypothesis that the dominant E1506K ABCC8 mutation, responsible for CHI, predisposes to the development of glucose intolerance and diabetes later in life. 20042013

2010
dbSNP: rs757110
rs757110
ABCC8
0.030 GeneticVariation BEFREE Type 2 diabetes-associated missense polymorphisms KCNJ11 E23K and ABCC8 A1369S influence progression to diabetes and response to interventions in the Diabetes Prevention Program. 17259403

2007
dbSNP: rs137852671
rs137852671
ABCC8
0.030 GeneticVariation BEFREE Heterozygous E1506K substitution in the SUR1 gene causes congenital hyperinsulinism in infancy, loss of insulin secretory capacity in early adulthood, and diabetes in middle-age. 12559865

2003
dbSNP: rs28938469
rs28938469
ABCC8
0.010 GeneticVariation BEFREE We explored the gene responsible for diabetes in two brothers, who were suspected to have diabetes </span>at 15 and 18 years-of-age, respectively, with whole exome sequencing, and identified a compound heterozygous ABCC8 gene mutation (p.Arg168Cys and p.Arg1421Cys). 31479591

2020
dbSNP: rs756823374
rs756823374
ABCC8
0.010 GeneticVariation BEFREE We explored the gene responsible for diabetes in two brothers, who were suspected to have diabetes at 15 and 18 years-of-age, respectively, with whole exome sequencing, and identified a compound heterozygous ABCC8 gene mutation (p.Arg168Cys and p.Arg1421Cys). 31479591

2020
dbSNP: rs1272388614
rs1272388614
ABCC8
0.010 GeneticVariation BEFREE One individual homozygous for R1420H was identified; retrospective review of his medical records was consistent with HHI and a diagnosis of diabetes at age 3.5 years. 26246406

2015
dbSNP: rs148529020
rs148529020
ABCC8
0.010 GeneticVariation BEFREE Here, we report a case of diabetes in a 7-mo old child with compound heterozygous mutations in ABCC8 (SUR1[A30V] and SUR1[G296R]). 22562119

2012
dbSNP: rs1285524167
rs1285524167
ABCC8
0.010 GeneticVariation BEFREE All these changes are expected to contribute to the diabetes of beta-V59M mice. 19065048

2009
dbSNP: rs1799854
rs1799854
ABCC8
0.010 GeneticVariation BEFREE The meta-analysis of East Asian populations also showed a strong significant association of the K allele with diabetes (OR=1.15, P=3 x 10(-9)), whereas the exon16-3t/c variant (rs1799854) in ABCC8 showed no significant association. 19498446

2009