rs137854607, SCN5A

N. diseases: 3
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.
Hereditary bundle branch system defect
CUI: C1879286
Disease: Hereditary bundle branch system defect
7 0.882 0.120 3 38554309 missense variant C/G;T snv 0.800 1.000 0 2001 2013
Brugada Syndrome (disorder)
CUI: C1142166
Disease: Brugada Syndrome (disorder)
103 0.882 0.120 3 38554309 missense variant C/G;T snv 0.700 1.000 5 2002 2012
CARDIOMYOPATHY, DILATED, 1E
CUI: C1832680
Disease: CARDIOMYOPATHY, DILATED, 1E
11 0.882 0.120 3 38554309 missense variant C/G;T snv 0.700 0