Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1272388614
rs1272388614
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C0020615
Disease:
Hypoglycemia
0.010 GeneticVariation BEFREE Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture. 25720052 2015