rs199472944, KCNH2

N. diseases: 3
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 2
CUI: C3150943
Disease: Long Qt Syndrome 2
267 0.882 0.120 7 150951552 missense variant G/A snv 0.800 1.000 25 1995 2009
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
349 0.882 0.120 7 150951552 missense variant G/A snv 0.700 1.000 30 1997 2015
Congenital long QT syndrome
CUI: C1141890
Disease: Congenital long QT syndrome
54 0.882 0.120 7 150951552 missense variant G/A snv 0.010 1.000 1 2011 2011