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
236 0.821 0.107 11 2778003 missense variant C/T snp 0.710 1.000 3 2009 2017
Congenital long QT syndrome
CUI: C1141890
Disease: Congenital long QT syndrome
223 0.821 0.107 11 2778003 missense variant C/T snp 0.700 15 1997 2012
LONG QT SYNDROME 1, ACQUIRED, SUSCEPTIBILITY TO
192 0.821 0.107 11 2778003 missense variant C/T snp 0.700 4 1998 2010
Romano-Ward Syndrome
CUI: C0035828
Disease: Romano-Ward Syndrome
232 0.821 0.107 11 2778003 missense variant C/T snp 0.700 4 1998 2010
LONG QT SYNDROME 1/2, DIGENIC (disorder)
418 0.821 0.107 11 2778003 missense variant C/T snp 0.700 4 1998 2010
Atrioventricular Block
CUI: C0004245
Disease: Atrioventricular Block
10 0.821 0.107 11 2778003 missense variant C/T snp 0.010 1.000 1 2011 2011