rs199472968, 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
CUI: C0023976
Disease: Long QT Syndrome
349 0.925 0.120 7 150951484 missense variant C/T snv 0.710 1.000 6 2002 2014
Long Qt Syndrome 2
CUI: C3150943
Disease: Long Qt Syndrome 2
267 0.925 0.120 7 150951484 missense variant C/T snv 0.700 1.000 20 1995 2009
Heart Diseases
CUI: C0018799
Disease: Heart Diseases
45 0.925 0.120 7 150951484 missense variant C/T snv 0.010 1.000 1 2019 2019