rs12720459, KCNQ1

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.
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
349 0.807 0.160 11 2583535 missense variant C/A;G;T snv 0.770 1.000 13 1996 2019
Long QT Syndrome 1
CUI: C4551647
Disease: Long QT Syndrome 1
240 0.807 0.160 11 2583535 missense variant C/A;G;T snv 0.850 1.000 10 2005 2017
Congenital long QT syndrome
CUI: C1141890
Disease: Congenital long QT syndrome
54 0.807 0.160 11 2583535 missense variant C/A;G;T snv 0.040 1.000 4 2005 2015
Cardiac Arrest
CUI: C0018790
Disease: Cardiac Arrest
50 0.807 0.160 11 2583535 missense variant C/A;G;T snv 0.010 1.000 1 2019 2019
cardiac event
CUI: C0741923
Disease: cardiac event
18 0.807 0.160 11 2583535 missense variant C/A;G;T snv 0.010 1.000 1 2014 2014
Miscarriage
CUI: C4552766
Disease: Miscarriage
56 0.807 0.160 11 2583535 missense variant C/A;G;T snv 0.010 1.000 1 2006 2006
LONG QT SYNDROME 1/2, DIGENIC (disorder)
6 0.807 0.160 11 2583535 missense variant C/A;G;T snv 0.700 0