rs199472815, 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 1
CUI: C4551647
Disease: Long QT Syndrome 1
240 0.851 0.120 11 2778024 missense variant G/A;C snv 2.0E-05 0.700 1.000 20 1996 2015
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
349 0.851 0.120 11 2778024 missense variant G/A;C snv 2.0E-05 0.700 1.000 16 2000 2014
Congenital long QT syndrome
CUI: C1141890
Disease: Congenital long QT syndrome
54 0.851 0.120 11 2778024 missense variant G/A;C snv 2.0E-05 0.700 1.000 11 2000 2014
Jervell-Lange Nielsen Syndrome
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
15 0.851 0.120 11 2778024 missense variant G/A;C snv 2.0E-05 0.020 1.000 2 2014 2018