rs120074193, 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 0.807 0.120 11 2572870 missense variant G/A;C snv 4.0E-06 0.810 1.000 26 1996 2017
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
349 0.807 0.120 11 2572870 missense variant G/A;C snv 4.0E-06 0.700 1.000 13 1997 2015
Atrial Fibrillation, Familial, 3
CUI: C1837014
Disease: Atrial Fibrillation, Familial, 3
10 0.807 0.120 11 2572870 missense variant G/A;C snv 4.0E-06 0.700 0
Beckwith-Wiedemann Syndrome
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
84 0.807 0.120 11 2572870 missense variant G/A;C snv 4.0E-06 0.700 0
Jervell And Lange-Nielsen Syndrome 1
23 0.807 0.120 11 2572870 missense variant G/A;C snv 4.0E-06 0.700 0
SHORT QT SYNDROME 2 (disorder)
CUI: C1865019
Disease: SHORT QT SYNDROME 2 (disorder)
9 0.807 0.120 11 2572870 missense variant G/A;C snv 4.0E-06 0.700 0
Syncope
CUI: C0039070
Disease: Syncope
45 0.807 0.120 11 2572870 missense variant G/A;C snv 4.0E-06 0.010 1 2006 2006