rs794728843, SCN5A

N. diseases: 2
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 0.925 0.080 3 38620842 splice donor variant C/T snv 7.0E-06 0.700 1.000 3 2010 2014
Brugada Syndrome 1
CUI: C4551804
Disease: Brugada Syndrome 1
234 0.925 0.080 3 38620842 splice donor variant C/T snv 7.0E-06 0.700 0