rs120074179, KCNQ1

N. diseases: 3
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 1
CUI: C4551647
Disease: Long QT Syndrome 1
240 0.925 0.120 11 2572089 missense variant G/A;C;T snv 0.800 1.000 20 1996 2015
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
349 0.925 0.120 11 2572089 missense variant G/A;C;T snv 0.710 1.000 11 1996 2012
Syncope
CUI: C0039070
Disease: Syncope
45 0.925 0.120 11 2572089 missense variant G/A;C;T snv 0.010 1.000 1 2018 2018