rs727504801, SCN5A

N. diseases: 3
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 38560397 frameshift variant G/- delins 0.700 1.000 5 1998 2012
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
509 0.925 0.080 3 38560397 frameshift variant G/- delins 0.700 1.000 5 1998 2012
Familial dilated cardiomyopathy
CUI: C0340427
Disease: Familial dilated cardiomyopathy
47 0.925 0.080 3 38560397 frameshift variant G/- delins 0.700 0