rs104894580, KCNJ2

N. diseases: 7
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.
Andersen Syndrome
CUI: C1563715
Disease: Andersen Syndrome
38 0.790 0.240 17 70175238 missense variant C/A;T snv 4.0E-06 0.800 1.000 12 2001 2013
Short QT Syndrome 3
CUI: C1865018
Disease: Short QT Syndrome 3
9 0.790 0.240 17 70175238 missense variant C/A;T snv 4.0E-06 0.700 1.000 6 2002 2013
ATRIAL FIBRILLATION, FAMILIAL, 9
CUI: C3151431
Disease: ATRIAL FIBRILLATION, FAMILIAL, 9
2 0.790 0.240 17 70175238 missense variant C/A;T snv 4.0E-06 0.700 0
Familial Periodic Paralysis
CUI: C0030443
Disease: Familial Periodic Paralysis
10 0.790 0.240 17 70175238 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2002 2002
periodic paralysis (finding)
CUI: C1279412
Disease: periodic paralysis (finding)
11 0.790 0.240 17 70175238 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2002 2002
Ventricular arrhythmia
CUI: C0085612
Disease: Ventricular arrhythmia
37 0.790 0.240 17 70175238 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2002 2002
Ventricular tachycardia, polymorphic
CUI: C0344432
Disease: Ventricular tachycardia, polymorphic
11 0.790 0.240 17 70175238 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2004 2004