rs74315446, KCNE1

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 5
CUI: C1867904
Disease: LONG QT SYNDROME 5
21 0.851 0.120 21 34449414 missense variant G/A;C snv 1.6E-05 0.700 1.000 8 1997 2014
Jervell-Lange Nielsen Syndrome
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
15 0.851 0.120 21 34449414 missense variant G/A;C snv 1.6E-05 0.010 1.000 1 2006 2006
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
349 0.851 0.120 21 34449414 missense variant G/A;C snv 1.6E-05 0.010 1.000 1 1998 1998
Long QT Syndrome 1
CUI: C4551647
Disease: Long QT Syndrome 1
240 0.851 0.120 21 34449414 missense variant G/A;C snv 1.6E-05 0.010 1.000 1 2006 2006