rs199472719, 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 2572104 missense variant C/T snv 4.1E-06 0.800 1.000 25 1996 2017
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
349 0.882 0.120 11 2572104 missense variant C/T snv 4.1E-06 0.700 1.000 12 2000 2015
Congenital long QT syndrome
CUI: C1141890
Disease: Congenital long QT syndrome
54 0.882 0.120 11 2572104 missense variant C/T snv 4.1E-06 0.010 1.000 1 2000 2000