rs80356618, KCNJ11

N. diseases: 8
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, PERMANENT NEONATAL
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
108 0.807 0.200 11 17387595 missense variant C/A;T snv 0.810 1.000 14 2004 2017
DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES
CUI: C1833102
Disease: DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES
9 0.807 0.200 11 17387595 missense variant C/A;T snv 0.700 0
DEND syndrome
CUI: C4303593
Disease: DEND syndrome
8 0.807 0.200 11 17387595 missense variant C/A;T snv 0.020 1.000 2 2006 2008
Developmental delay (disorder)
CUI: C0424605
Disease: Developmental delay (disorder)
68 0.807 0.200 11 17387595 missense variant C/A;T snv 0.010 1.000 1 2006 2006
Diabetic Neuropathies
CUI: C0011882
Disease: Diabetic Neuropathies
12 0.807 0.200 11 17387595 missense variant C/A;T snv 0.010 1.000 1 2006 2006
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.807 0.200 11 17387595 missense variant C/A;T snv 0.010 1.000 1 2006 2006
Hyperglycemia
CUI: C0020456
Disease: Hyperglycemia
108 0.807 0.200 11 17387595 missense variant C/A;T snv 0.010 1.000 1 2006 2006
Neonatal diabetes mellitus
CUI: C0158981
Disease: Neonatal diabetes mellitus
33 0.807 0.200 11 17387595 missense variant C/A;T snv 0.010 1.000 1 2006 2006