rs794728568, KCNQ1

N. diseases: 2
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.
Congenital long QT syndrome
CUI: C1141890
Disease: Congenital long QT syndrome
54 0.925 0.120 11 2570707 missense variant G/A;T snv 0.700 1.000 3 2016 2016
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
349 0.925 0.120 11 2570707 missense variant G/A;T snv 0.700 1.000 3 2012 2016