rs80356624, KCNJ11

N. diseases: 16
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 0.752 0.240 11 17387490 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 0.752 0.240 11 17387490 missense variant C/A;T snv 0.700 0
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
CUI: C1864623
Disease: DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
15 0.752 0.240 11 17387490 missense variant C/A;T snv 0.700 0
Neonatal insulin-dependent diabetes mellitus
CUI: C3278636
Disease: Neonatal insulin-dependent diabetes mellitus
6 0.752 0.240 11 17387490 missense variant C/A;T snv 0.700 0
Neonatal diabetes mellitus
CUI: C0158981
Disease: Neonatal diabetes mellitus
33 0.752 0.240 11 17387490 missense variant C/A;T snv 0.030 1.000 3 2006 2009
Developmental delay (disorder)
CUI: C0424605
Disease: Developmental delay (disorder)
68 0.752 0.240 11 17387490 missense variant C/A;T snv 0.020 1.000 2 2005 2006
Diabetes
CUI: C0011847
Disease: Diabetes
710 0.752 0.240 11 17387490 missense variant C/A;T snv 0.020 0.500 2 2006 2012
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
824 0.752 0.240 11 17387490 missense variant C/A;T snv 0.020 0.500 2 2006 2012
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.752 0.240 11 17387490 missense variant C/A;T snv 0.020 1.000 2 2005 2006
Hyperglycemia
CUI: C0020456
Disease: Hyperglycemia
108 0.752 0.240 11 17387490 missense variant C/A;T snv 0.020 1.000 2 2006 2011
Muscle Weakness
CUI: C0151786
Disease: Muscle Weakness
87 0.752 0.240 11 17387490 missense variant C/A;T snv 0.020 1.000 2 2005 2006
Paresis
CUI: C0030552
Disease: Paresis
49 0.752 0.240 11 17387490 missense variant C/A;T snv 0.020 1.000 2 2005 2006
Celiac Disease
CUI: C0007570
Disease: Celiac Disease
263 0.752 0.240 11 17387490 missense variant C/A;T snv 0.010 1.000 1 2009 2009
Diabetic Neuropathies
CUI: C0011882
Disease: Diabetic Neuropathies
12 0.752 0.240 11 17387490 missense variant C/A;T snv 0.010 1.000 1 2006 2006
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.752 0.240 11 17387490 missense variant C/A;T snv 0.010 1.000 1 2005 2005
Ketosis
CUI: C0022638
Disease: Ketosis
11 0.752 0.240 11 17387490 missense variant C/A;T snv 0.010 1.000 1 2011 2011