rs121909730, GLUD1

N. diseases: 4
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Hyperinsulinemic hypoglycemia, familial, 6
CUI: C1847555
Disease: Hyperinsulinemic hypoglycemia, familial, 6
11 0.882 0.040 10 87053380 missense variant G/A snv 0.810 1.000 5 1998 2006
Hypoglycemia
CUI: C0020615
Disease: Hypoglycemia
42 0.882 0.040 10 87053380 missense variant G/A snv 0.020 1.000 2 2006 2014
Fasting Hypoglycemia
CUI: C0271708
Disease: Fasting Hypoglycemia
1 0.882 0.040 10 87053380 missense variant G/A snv 0.010 1.000 1 2014 2014
Hyperinsulinism
CUI: C0020459
Disease: Hyperinsulinism
64 0.882 0.040 10 87053380 missense variant G/A snv 0.010 1.000 1 2014 2014