rs137854617, SCN5A

N. diseases: 3
Source: UNIPROT ×
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 1
CUI: C4551804
Disease: Brugada Syndrome 1
217 0.882 0.120 3 38581002 stop gained C/A;T snv 1.1E-04 1.5E-04 0.800 1.000 21 1998 2016
LONG QT SYNDROME 3
CUI: C1859062
Disease: LONG QT SYNDROME 3
141 0.882 0.120 3 38581002 stop gained C/A;T snv 1.1E-04 1.5E-04 0.800 1.000 20 1995 2015
ATRIAL FIBRILLATION, FAMILIAL, 10
CUI: C3151464
Disease: ATRIAL FIBRILLATION, FAMILIAL, 10
11 0.882 0.120 3 38581002 stop gained C/A;T snv 1.1E-04 1.5E-04 0.800 1.000 2 2008 2008