rs80356616, KCNJ11

N. diseases: 19
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 0.732 0.360 11 17387917 missense variant C/T snv 0.800 1.000 13 2004 2017
DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES
CUI: C1833102
Disease: DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES
9 0.732 0.360 11 17387917 missense variant C/T snv 0.700 0
Neonatal insulin-dependent diabetes mellitus
CUI: C3278636
Disease: Neonatal insulin-dependent diabetes mellitus
6 0.732 0.360 11 17387917 missense variant C/T snv 0.700 0
Developmental delay (disorder)
CUI: C0424605
Disease: Developmental delay (disorder)
68 0.732 0.360 11 17387917 missense variant C/T snv 0.030 1.000 3 2006 2006
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.732 0.360 11 17387917 missense variant C/T snv 0.030 1.000 3 2006 2006
Diabetes
CUI: C0011847
Disease: Diabetes
710 0.732 0.360 11 17387917 missense variant C/T snv 0.020 0.500 2 2006 2012
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
824 0.732 0.360 11 17387917 missense variant C/T snv 0.020 0.500 2 2006 2012
Neonatal diabetes mellitus
CUI: C0158981
Disease: Neonatal diabetes mellitus
33 0.732 0.360 11 17387917 missense variant C/T snv 0.020 1.000 2 2006 2006
Clumsiness - motor delay
CUI: C0520947
Disease: Clumsiness - motor delay
2 0.732 0.360 11 17387917 missense variant C/T snv 0.010 1.000 1 2004 2004
DEND syndrome
CUI: C4303593
Disease: DEND syndrome
8 0.732 0.360 11 17387917 missense variant C/T snv 0.010 1.000 1 2011 2011
Developmental Delay, Epilepsy, and Neonatal Diabetes
CUI: C1853564
Disease: Developmental Delay, Epilepsy, and Neonatal Diabetes
5 0.732 0.360 11 17387917 missense variant C/T snv 0.010 1.000 1 2011 2011
Diabetic Neuropathies
CUI: C0011882
Disease: Diabetic Neuropathies
12 0.732 0.360 11 17387917 missense variant C/T snv 0.010 1.000 1 2006 2006
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.732 0.360 11 17387917 missense variant C/T snv 0.010 1.000 1 2005 2005
Epilepsy, Generalized
CUI: C0014548
Disease: Epilepsy, Generalized
36 0.732 0.360 11 17387917 missense variant C/T snv 0.010 1.000 1 2006 2006
Hyperglycemia
CUI: C0020456
Disease: Hyperglycemia
108 0.732 0.360 11 17387917 missense variant C/T snv 0.010 1.000 1 2006 2006
Mental disorders
CUI: C0004936
Disease: Mental disorders
149 0.732 0.360 11 17387917 missense variant C/T snv 0.010 1.000 1 2016 2016
Muscle Weakness
CUI: C0151786
Disease: Muscle Weakness
87 0.732 0.360 11 17387917 missense variant C/T snv 0.010 1.000 1 2006 2006
Paresis
CUI: C0030552
Disease: Paresis
49 0.732 0.360 11 17387917 missense variant C/T snv 0.010 1.000 1 2006 2006
Trichohepatoenteric Syndrome
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
28 0.732 0.360 11 17387917 missense variant C/T snv 0.010 1.000 1 2006 2006