rs199473442, 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 1.000 0.120 11 2445103 missense variant C/G;T snv 0.800 1.000 24 1996 2017
Prolonged QT interval
CUI: C0151878
Disease: Prolonged QT interval
12 1.000 0.120 11 2445103 missense variant C/G;T snv 0.700 0
Syncope
CUI: C0039070
Disease: Syncope
45 1.000 0.120 11 2445103 missense variant C/G;T snv 0.700 0