rs773724817, KCNH2

N. diseases: 4
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.
Overgrowth
CUI: C1849265
Disease: Overgrowth
93 0.925 0.160 7 150948861 stop gained G/A snv 4.0E-06 0.700 1.000 14 1999 2016
Cardiac Arrhythmia
CUI: C0003811
Disease: Cardiac Arrhythmia
111 0.925 0.160 7 150948861 stop gained G/A snv 4.0E-06 0.010 1.000 1 2012 2012
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.925 0.160 7 150948861 stop gained G/A snv 4.0E-06 0.010 1.000 1 2012 2012
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
349 0.925 0.160 7 150948861 stop gained G/A snv 4.0E-06 0.710 0.800 5 2003 2012