rs120074184, 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.
Long QT Syndrome 1
CUI: C4551647
Disease: Long QT Syndrome 1
240 0.925 0.120 11 2583453 missense variant G/A;C;T snv 0.800 1.000 25 1996 2017
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
349 0.925 0.120 11 2583453 missense variant G/A;C;T snv 0.710 1.000 1 2009 2009