Disease: Hypoglycemia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1344172059
rs1344172059
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C0020615
Disease:
Hypoglycemia 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs141322087
rs141322087
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C0020615
Disease:
Hypoglycemia 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs763028380
rs763028380
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C0020615
Disease:
Hypoglycemia 		A 0.700 GeneticVariation CLINVAR
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
dbSNP: rs1446306735
rs1446306735
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
dbSNP: rs137852671
rs137852671
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C0020615
Disease:
Hypoglycemia 		0.010 GeneticVariation BEFREE Here, we report a family carrying the dominant heterozygous germ line E1506K mutation in ABCC8 associated with persistent hypoglycemia in the newborn period and diabetes in adulthood. 20042013 2010