rs137854601, SCN5A

N. diseases: 6
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.
LONG QT SYNDROME 3
CUI: C1859062
Disease: LONG QT SYNDROME 3
30 0.776 0.120 3 38551022 stop gained C/A;T snv 4.0E-06 0.820 1.000 6 1995 2018
Brugada Syndrome 1
CUI: C4551804
Disease: Brugada Syndrome 1
34 0.776 0.120 3 38551022 stop gained C/A;T snv 4.0E-06 0.800 1.000 0 1998 2016
Brugada Syndrome (disorder)
CUI: C1142166
Disease: Brugada Syndrome (disorder)
103 0.776 0.120 3 38551022 stop gained C/A;T snv 4.0E-06 0.720 1.000 16 1999 2018
Congenital long QT syndrome
CUI: C1141890
Disease: Congenital long QT syndrome
21 0.776 0.120 3 38551022 stop gained C/A;T snv 4.0E-06 0.700 1.000 7 1999 2014
Romano-Ward Syndrome
CUI: C0035828
Disease: Romano-Ward Syndrome
15 0.776 0.120 3 38551022 stop gained C/A;T snv 4.0E-06 0.700 1.000 5 1999 2011
Sinus Node Dysfunction (disorder)
CUI: C0428908
Disease: Sinus Node Dysfunction (disorder)
1 0.776 0.120 3 38551022 stop gained C/A;T snv 4.0E-06 0.700 0