Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs199473282
rs199473282
SCN5A
0.827 0.120 3 38551513 missense variant G/A;T snv 4.0E-06
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.740 1.000 10 1998 2015
dbSNP: rs137854601
rs137854601
SCN5A
0.776 0.120 3 38551022 stop gained C/A;T snv 4.0E-06
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.720 1.000 16 1999 2018
dbSNP: rs28937318
rs28937318
SCN5A
0.925 0.080 3 38606709 missense variant C/A;T snv
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.720 1.000 11 2002 2018
dbSNP: rs137854614
rs137854614
SCN5A
0.882 0.120 3 38550988 missense variant T/C snv
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.720 1.000 4 2001 2008
dbSNP: rs199473101
rs199473101
SCN5A
0.925 0.080 3 38606682 missense variant C/A;T snv 8.1E-06
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.710 1.000 10 2004 2017
dbSNP: rs199473220
rs199473220
SCN5A
0.882 0.120 3 38562422 missense variant C/A snv 4.2E-05 2.8E-05
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.710 1.000 10 2002 2014
dbSNP: rs137854611
rs137854611
SCN5A
0.882 0.120 3 38597787 missense variant G/A;C;T snv 4.0E-06
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.710 1.000 6 2002 2019
dbSNP: rs794728849
rs794728849
SCN5A
0.925 0.120 3 38613782 stop gained G/A;C snv
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.710 1.000 4 2009 2016
dbSNP: rs199473058
rs199473058
SCN5A
0.925 0.080 3 38630341 missense variant C/T snv 4.0E-06
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.710 1.000 3 2010 2014
dbSNP: rs759924541
rs759924541
SCN5A
0.925 0.120 3 38579439 stop gained C/A;G;T snv 8.1E-06
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.710 1.000 2 2013 2017
dbSNP: rs199473062
rs199473062
SCN5A
0.827 0.120 3 38622401 stop gained C/A;G;T snv 4.1E-06
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.710 < 0.001 0 2005 2005
dbSNP: rs45546039
rs45546039
SCN5A
0.732 0.120 3 38613781 missense variant C/A;T snv 4.1E-06
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 1.000 10 2005 2015
dbSNP: rs199473311
rs199473311
SCN5A
0.882 0.120 3 38551070 missense variant T/C snv 7.0E-06
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 1.000 9 2002 2015
dbSNP: rs137854604
rs137854604
SCN5A
0.882 0.120 3 38551243 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 1.000 8 2000 2016
dbSNP: rs137854618
rs137854618
SCN5A
0.742 0.120 3 38566426 missense variant C/A;T snv 8.0E-06
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 1.000 8 2003 2015
dbSNP: rs749697698
rs749697698
SCN5A
0.882 0.120 3 38551520 inframe deletion AAG/- delins 2.0E-05
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 1.000 8 2000 2017
dbSNP: rs137854600
rs137854600
SCN5A
0.807 0.120 3 38551504 missense variant C/A;T snv
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 1.000 7 1998 2010
dbSNP: rs1417036453
rs1417036453
SCN5A
0.925 0.080 3 38603999 stop gained G/A snv 4.0E-06
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 1.000 7 2002 2013
dbSNP: rs199473556
rs199473556
SCN5A
0.851 0.120 3 38630342 missense variant G/A snv
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 1.000 7 2009 2015
dbSNP: rs1366120635
rs1366120635
SCN5A
1.000 0.080 3 38566408 splice donor variant C/T snv 8.0E-06
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 1.000 6 2007 2017
dbSNP: rs199473097
rs199473097
SCN5A
0.763 0.120 3 38606710 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 1.000 6 2002 2017
dbSNP: rs199473153
rs199473153
SCN5A
0.882 0.120 3 38597737 stop gained C/A;T snv 4.0E-06
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 1.000 6 2002 2015
dbSNP: rs28937316
rs28937316
SCN5A
0.882 0.120 3 38551441 missense variant C/A;T snv 4.0E-06
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 1.000 6 1995 2009
dbSNP: rs757532106
rs757532106
SCN5A
0.763 0.120 3 38550500 stop gained G/A snv 4.5E-05 4.9E-05
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 1.000 6 2005 2017
dbSNP: rs137854607
rs137854607
SCN5A
0.882 0.120 3 38554309 missense variant C/G;T snv
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 1.000 5 2002 2012