rs80356624, KCNJ11

N. diseases: 13
Source: BEFREE ×
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
12 0.752 0.240 11 17387490 missense variant C/A;T snv 0.810 1.000 1 2004 2017
Neonatal diabetes mellitus
CUI: C0158981
Disease: Neonatal diabetes mellitus
22 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)
37 0.752 0.240 11 17387490 missense variant C/A;T snv 0.020 1.000 2 2005 2006
Diabetes
CUI: C0011847
Disease: Diabetes
611 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
714 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
51 0.752 0.240 11 17387490 missense variant C/A;T snv 0.020 1.000 2 2005 2006
Hyperglycemia
CUI: C0020456
Disease: Hyperglycemia
79 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
46 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
76 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
250 0.752 0.240 11 17387490 missense variant C/A;T snv 0.010 1.000 1 2005 2005
Ketosis
CUI: C0022638
Disease: Ketosis
10 0.752 0.240 11 17387490 missense variant C/A;T snv 0.010 1.000 1 2011 2011