rs780957825, KCNJ11

N. diseases: 5
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.
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
CUI: C1864623
Disease: DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
15 0.827 0.160 11 17387211 missense variant G/A;C snv 2.0E-05 0.700 1.000 5 2009 2016
Hyperinsulinemic hypoglycemia, familial, 2
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
50 0.827 0.160 11 17387211 missense variant G/A;C snv 2.0E-05 0.700 0
Congenital Hyperinsulinism
CUI: C3888018
Disease: Congenital Hyperinsulinism
27 0.827 0.160 11 17387211 missense variant G/A;C snv 2.0E-05 0.010 1.000 1 2010 2010
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.827 0.160 11 17387211 missense variant G/A;C snv 2.0E-05 0.010 1.000 1 2010 2010
Hyperinsulinemic hypoglycemia
CUI: C1864903
Disease: Hyperinsulinemic hypoglycemia
6 0.827 0.160 11 17387211 missense variant G/A;C snv 2.0E-05 0.010 1.000 1 2010 2010