rs151344631, KCNQ1

N. diseases: 5
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
CUI: C0023976
Disease: Long QT Syndrome
349 0.827 0.200 11 2571333 missense variant G/A snv 8.0E-06 3.5E-05 0.730 1.000 6 2008 2018
Long QT Syndrome 1
CUI: C4551647
Disease: Long QT Syndrome 1
240 0.827 0.200 11 2571333 missense variant G/A snv 8.0E-06 3.5E-05 0.710 1.000 1 2014 2014
Congenital long QT syndrome
CUI: C1141890
Disease: Congenital long QT syndrome
54 0.827 0.200 11 2571333 missense variant G/A snv 8.0E-06 3.5E-05 0.700 1.000 4 2008 2015
Jervell-Lange Nielsen Syndrome
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
15 0.827 0.200 11 2571333 missense variant G/A snv 8.0E-06 3.5E-05 0.010 1.000 1 2014 2014
Prelingual Deafness
CUI: C0011052
Disease: Prelingual Deafness
2 0.827 0.200 11 2571333 missense variant G/A snv 8.0E-06 3.5E-05 0.010 1.000 1 2014 2014