Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554199368
rs1554199368
NSD1
T 0.700 CausalMutation CLINVAR

dbSNP: rs121913236
rs121913236
KRAS
0.010 GeneticVariation BEFREE A previously reported individual with the rare HRAS p.Gln22Lys had hyperinsulinemic hypoglycemia. 26572961

2016
dbSNP: rs121917757
rs121917757
HRAS ; LRRC56
0.010 GeneticVariation BEFREE A previously reported individual with the rare HRAS p.Gln22Lys had hyperinsulinemic hypoglycemia. 26572961

2016
dbSNP: rs587777732
rs587777732
HNF4A ; MIR3646
0.010 GeneticVariation BEFREE The p.R63W mutation in the hepatocyte nuclear factor-4 alpha (HNF4A) results in macrosomia and atypical Fanconi syndrome, in addition to hyperinsulinaemic hypoglycaemia (HI). 27245055

2016
dbSNP: rs137852671
rs137852671
ABCC8
0.010 GeneticVariation BEFREE Hyperinsulinemic hypoglycemia evolving to gestational diabetes and diabetes mellitus in a family carrying the inactivating ABCC8 E1506K mutation. 20042013

2010
dbSNP: rs780957825
rs780957825
KCNJ11
0.010 GeneticVariation BEFREE The authors report a case of familial hyperinsulinemic hypoglycemia with homozygous T294M mutation of the KCNJ11 gene, which responded to diazoxide therapy. 20589481

2010