rs199473153, SCN5A

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.
Brugada Syndrome 1
CUI: C4551804
Disease: Brugada Syndrome 1
234 0.882 0.120 3 38597737 stop gained C/A;T snv 4.0E-06 0.700 1.000 20 1998 2016
Brugada Syndrome (disorder)
CUI: C1142166
Disease: Brugada Syndrome (disorder)
201 0.882 0.120 3 38597737 stop gained C/A;T snv 4.0E-06 0.700 1.000 6 2002 2015
Hereditary bundle branch system defect
CUI: C1879286
Disease: Hereditary bundle branch system defect
16 0.882 0.120 3 38597737 stop gained C/A;T snv 4.0E-06 0.700 1.000 6 2001 2013
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
509 0.882 0.120 3 38597737 stop gained C/A;T snv 4.0E-06 0.010 1.000 1 2010 2010