rs120074190, 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 0.882 0.120 11 2778009 missense variant G/A snv 4.8E-05 5.6E-05 0.800 1.000 20 1996 2015
Jervell And Lange-Nielsen Syndrome 1
CUI: C4551509
Disease: Jervell And Lange-Nielsen Syndrome 1
23 0.882 0.120 11 2778009 missense variant G/A snv 4.8E-05 5.6E-05 0.800 1.000 6 1998 2015
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
349 0.882 0.120 11 2778009 missense variant G/A snv 4.8E-05 5.6E-05 0.730 1.000 11 1999 2017