rs199472910, KCNH2

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.
Congenital long QT syndrome
CUI: C1141890
Disease: Congenital long QT syndrome
54 0.827 0.120 7 150952508 missense variant G/A snv 1.2E-05 0.700 1.000 5 2003 2017
Long Qt Syndrome 2
CUI: C3150943
Disease: Long Qt Syndrome 2
267 0.827 0.120 7 150952508 missense variant G/A snv 1.2E-05 0.700 1.000 4 2009 2017
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
349 0.827 0.120 7 150952508 missense variant G/A snv 1.2E-05 0.010 1.000 1 2017 2017
Long QT Syndrome 1
CUI: C4551647
Disease: Long QT Syndrome 1
240 0.827 0.120 7 150952508 missense variant G/A snv 1.2E-05 0.010 1.000 1 2017 2017
Romano-Ward Syndrome
CUI: C0035828
Disease: Romano-Ward Syndrome
17 0.827 0.120 7 150952508 missense variant G/A snv 1.2E-05 0.010 1.000 1 2017 2017