rs199473394, 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 2570685 missense variant G/A snv 7.0E-06 0.700 1.000 20 1996 2015
Congenital long QT syndrome
CUI: C1141890
Disease: Congenital long QT syndrome
54 0.925 0.120 11 2570685 missense variant G/A snv 7.0E-06 0.700 1.000 9 2000 2018