rs137854601, SCN5A

N. diseases: 10
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.
LONG QT SYNDROME 3
CUI: C1859062
Disease: LONG QT SYNDROME 3
157 0.776 0.120 3 38551022 stop gained C/A;T snv 4.0E-06 0.820 1.000 25 1995 2018
Brugada Syndrome 1
CUI: C4551804
Disease: Brugada Syndrome 1
234 0.776 0.120 3 38551022 stop gained C/A;T snv 4.0E-06 0.800 1.000 20 1998 2016
Brugada Syndrome (disorder)
CUI: C1142166
Disease: Brugada Syndrome (disorder)
201 0.776 0.120 3 38551022 stop gained C/A;T snv 4.0E-06 0.720 1.000 18 1999 2018
Congenital long QT syndrome
CUI: C1141890
Disease: Congenital long QT syndrome
54 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
17 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)
7 0.776 0.120 3 38551022 stop gained C/A;T snv 4.0E-06 0.700 0
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
349 0.776 0.120 3 38551022 stop gained C/A;T snv 4.0E-06 0.030 1.000 3 2000 2014
Fever
CUI: C0015967
Disease: Fever
66 0.776 0.120 3 38551022 stop gained C/A;T snv 4.0E-06 0.010 1.000 1 2018 2018
Hypernatremia
CUI: C0020488
Disease: Hypernatremia
3 0.776 0.120 3 38551022 stop gained C/A;T snv 4.0E-06 0.010 1.000 1 2017 2017
Long QT syndrome type 3
CUI: C2931401
Disease: Long QT syndrome type 3
3 0.776 0.120 3 38551022 stop gained C/A;T snv 4.0E-06 0.010 1.000 1 2018 2018