rs199472709, KCNQ1

N. diseases: 7
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 0.790 0.120 11 2572021 missense variant G/A;T snv 0.800 1.000 20 1996 2015
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
349 0.790 0.120 11 2572021 missense variant G/A;T snv 0.700 1.000 7 2004 2015
Atrial Fibrillation, Familial, 3
CUI: C1837014
Disease: Atrial Fibrillation, Familial, 3
10 0.790 0.120 11 2572021 missense variant G/A;T snv 0.700 0
Beckwith-Wiedemann Syndrome
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
84 0.790 0.120 11 2572021 missense variant G/A;T snv 0.700 0
Jervell And Lange-Nielsen Syndrome 1
CUI: C4551509
Disease: Jervell And Lange-Nielsen Syndrome 1
23 0.790 0.120 11 2572021 missense variant G/A;T snv 0.700 0
SHORT QT SYNDROME 2 (disorder)
CUI: C1865019
Disease: SHORT QT SYNDROME 2 (disorder)
9 0.790 0.120 11 2572021 missense variant G/A;T snv 0.700 0
Atrial Fibrillation
CUI: C0004238
Disease: Atrial Fibrillation
584 0.790 0.120 11 2572021 missense variant G/A;T snv 0.010 1.000 1 2013 2013