Gene: ABCC8 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1272388614
rs1272388614
ABCC8
0.010 GeneticVariation BEFREE Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture. 25720052

2015
dbSNP: rs1446306735
rs1446306735
ABCC8
0.010 GeneticVariation BEFREE Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture. 25720052

2015
dbSNP: rs775776658
rs775776658
ABCC8
0.010 GeneticVariation BEFREE Familial mild hyperglycemia associated with a novel ABCC8-V84I mutation within three generations. 21214702

2011
dbSNP: rs59852838
rs59852838
ABCC8
0.010 GeneticVariation BEFREE A mutation in ABCC8/SUR1, leading to a Y356C substitution in the seventh membrane-spanning alpha-helix, was observed in a patient diagnosed with hyperglycemia at age 39 years and in two adult offspring with impaired insulin secretion. 18346985

2008