rs199472696, 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
CUI: C0023976
Disease: Long QT Syndrome
349 0.851 0.120 11 2570670 missense variant C/T snv 4.0E-06 1.4E-05 0.700 1.000 8 1997 2013
Romano-Ward Syndrome
CUI: C0035828
Disease: Romano-Ward Syndrome
17 0.851 0.120 11 2570670 missense variant C/T snv 4.0E-06 1.4E-05 0.700 1.000 6 1997 2013
Long QT Syndrome 1
CUI: C4551647
Disease: Long QT Syndrome 1
240 0.851 0.120 11 2570670 missense variant C/T snv 4.0E-06 1.4E-05 0.700 0
Congenital long QT syndrome
CUI: C1141890
Disease: Congenital long QT syndrome
54 0.851 0.120 11 2570670 missense variant C/T snv 4.0E-06 1.4E-05 0.010 1.000 1 2018 2018