rs121912512, 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 150950311 missense variant C/T snv 4.0E-06 1.4E-05 0.800 1.000 24 1995 2017
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
349 0.882 0.120 7 150950311 missense variant C/T snv 4.0E-06 1.4E-05 0.710 1.000 1 2003 2003
Tachycardia, Ventricular
CUI: C0042514
Disease: Tachycardia, Ventricular
31 0.882 0.120 7 150950311 missense variant C/T snv 4.0E-06 1.4E-05 0.010 1.000 1 2003 2003