rs199472730, KCNQ1

N. diseases: 5
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 0.882 0.120 11 2572895 missense variant C/G;T snv 0.710 1.000 1 2011 2011
Long QT Syndrome 1
CUI: C4551647
Disease: Long QT Syndrome 1
240 0.882 0.120 11 2572895 missense variant C/G;T snv 0.700 1.000 20 1996 2015
Syncope
CUI: C0039070
Disease: Syncope
45 0.882 0.120 11 2572895 missense variant C/G;T snv 0.020 1.000 2 2011 2018
cocaine use
CUI: C3496069
Disease: cocaine use
8 0.882 0.120 11 2572895 missense variant C/G;T snv 0.010 1.000 1 2011 2011
Emotional Stress
CUI: C0086209
Disease: Emotional Stress
1 0.882 0.120 11 2572895 missense variant C/G;T snv 0.010 1.000 1 2011 2011