rs199472795, KCNQ1

N. diseases: 6
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 2775984 missense variant C/T snv 7.0E-06 0.800 1.000 20 1996 2015
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
349 0.807 0.120 11 2775984 missense variant C/T snv 7.0E-06 0.710 1.000 12 2000 2015
Atrial Fibrillation, Familial, 3
CUI: C1837014
Disease: Atrial Fibrillation, Familial, 3
10 0.807 0.120 11 2775984 missense variant C/T snv 7.0E-06 0.700 0
Beckwith-Wiedemann Syndrome
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
84 0.807 0.120 11 2775984 missense variant C/T snv 7.0E-06 0.700 0
Jervell And Lange-Nielsen Syndrome 1
23 0.807 0.120 11 2775984 missense variant C/T snv 7.0E-06 0.700 0
SHORT QT SYNDROME 2 (disorder)
CUI: C1865019
Disease: SHORT QT SYNDROME 2 (disorder)
9 0.807 0.120 11 2775984 missense variant C/T snv 7.0E-06 0.700 0