rs199473062, SCN5A

N. diseases: 5
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 (disorder)
CUI: C1142166
Disease: Brugada Syndrome (disorder)
201 0.827 0.120 3 38622401 stop gained C/A;G;T snv 4.1E-06 0.710 1 2005 2005
Brugada Syndrome 1
CUI: C4551804
Disease: Brugada Syndrome 1
234 0.827 0.120 3 38622401 stop gained C/A;G;T snv 4.1E-06 0.700 1.000 21 1998 2016
Hereditary bundle branch system defect
CUI: C1879286
Disease: Hereditary bundle branch system defect
16 0.827 0.120 3 38622401 stop gained C/A;G;T snv 4.1E-06 0.700 1.000 6 2001 2013
Sick Sinus Syndrome
CUI: C0037052
Disease: Sick Sinus Syndrome
7 0.827 0.120 3 38622401 stop gained C/A;G;T snv 4.1E-06 0.010 1.000 1 2005 2005
Sinus Node Dysfunction (disorder)
CUI: C0428908
Disease: Sinus Node Dysfunction (disorder)
7 0.827 0.120 3 38622401 stop gained C/A;G;T snv 4.1E-06 0.010 1 2005 2005