rs120074185, 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 2776032 missense variant C/A;T snv 1.1E-05; 1.1E-05 0.800 1.000 20 1996 2015
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
349 0.925 0.120 11 2776032 missense variant C/A;T snv 1.1E-05; 1.1E-05 0.710 1.000 1 2005 2005
Prolonged QT interval
CUI: C0151878
Disease: Prolonged QT interval
12 0.925 0.120 11 2776032 missense variant C/A;T snv 1.1E-05; 1.1E-05 0.700 1.000 10 1997 2016