rs120074189, KCNQ1

N. diseases: 4
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 0.851 0.120 11 2778003 missense variant C/T snv 0.700 1.000 20 1996 2015
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
349 0.851 0.120 11 2778003 missense variant C/T snv 0.720 0.917 12 1998 2019
Atrioventricular Block
CUI: C0004245
Disease: Atrioventricular Block
17 0.851 0.120 11 2778003 missense variant C/T snv 0.010 1.000 1 2010 2010
Jervell And Lange-Nielsen Syndrome 1
23 0.851 0.120 11 2778003 missense variant C/T snv 0.700 0