rs199472936, KCNH2

N. diseases: 5
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 2
CUI: C3150943
Disease: Long Qt Syndrome 2
267 0.882 0.120 7 150951592 missense variant C/A;T snv 0.830 1.000 32 1995 2017
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
349 0.882 0.120 7 150951592 missense variant C/A;T snv 0.700 1.000 9 1998 2015
Adverse Event Associated with Cardiac Arrhythmia
5 0.882 0.120 7 150951592 missense variant C/A;T snv 0.010 1.000 1 1999 1999
Cardiac Arrhythmia
CUI: C0003811
Disease: Cardiac Arrhythmia
111 0.882 0.120 7 150951592 missense variant C/A;T snv 0.010 1.000 1 1999 1999
Congenital long QT syndrome
CUI: C1141890
Disease: Congenital long QT syndrome
54 0.882 0.120 7 150951592 missense variant C/A;T snv 0.010 1.000 1 1999 1999