rs397514450, SCN5A

N. diseases: 2
Source: CLINVAR ×
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)
103 0.925 0.080 3 38585926 frameshift variant -/AC delins 0.700 1.000 4 2005 2017
CARDIOMYOPATHY, DILATED, 1E
CUI: C1832680
Disease: CARDIOMYOPATHY, DILATED, 1E
11 0.925 0.080 3 38585926 frameshift variant -/AC delins 0.700 0