rs137852671, ABCC8

N. diseases: 10
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, 1
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
147 0.790 0.160 11 17394295 missense variant C/T snv 0.800 1.000 20 1996 2015
Congenital Hyperinsulinism
CUI: C3888018
Disease: Congenital Hyperinsulinism
27 0.790 0.160 11 17394295 missense variant C/T snv 0.030 1.000 3 2000 2010
Diabetes
CUI: C0011847
Disease: Diabetes
710 0.790 0.160 11 17394295 missense variant C/T snv 0.030 1.000 3 2003 2013
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
824 0.790 0.160 11 17394295 missense variant C/T snv 0.030 1.000 3 2003 2013
Hyperinsulinism
CUI: C0020459
Disease: Hyperinsulinism
64 0.790 0.160 11 17394295 missense variant C/T snv 0.020 1.000 2 2003 2011
Impaired glucose tolerance
CUI: C0271650
Disease: Impaired glucose tolerance
81 0.790 0.160 11 17394295 missense variant C/T snv 0.020 1.000 2 2010 2013
Gestational Diabetes
CUI: C0085207
Disease: Gestational Diabetes
224 0.790 0.160 11 17394295 missense variant C/T snv 0.010 1.000 1 2010 2010
Hyperinsulinemic hypoglycemia
CUI: C1864903
Disease: Hyperinsulinemic hypoglycemia
6 0.790 0.160 11 17394295 missense variant C/T snv 0.010 1.000 1 2010 2010
Hypoglycemia
CUI: C0020615
Disease: Hypoglycemia
42 0.790 0.160 11 17394295 missense variant C/T snv 0.010 1.000 1 2010 2010
Impaired insulin secretion
CUI: C0948379
Disease: Impaired insulin secretion
14 0.790 0.160 11 17394295 missense variant C/T snv 0.010 1.000 1 2013 2013