Source: CURATED

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: 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: 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: 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: 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: rs1553705586
rs1553705586
SCN5A
1.000 0.080 3 38609966 splice acceptor variant T/C snv
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 1.000 5 1998 2012
dbSNP: rs199473161
rs199473161
SCN5A
1.000 0.080 3 38586038 missense variant G/A;T snv
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 1.000 5 2005 2015
dbSNP: rs199473305
rs199473305
SCN5A
0.925 0.080 3 38551145 missense variant C/T snv 1.4E-05
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 1.000 5 2003 2015
dbSNP: rs727504801
rs727504801
SCN5A
0.925 0.080 3 38560397 frameshift variant G/- delins
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 1.000 5 1998 2012
dbSNP: rs397514450
rs397514450
SCN5A
0.925 0.080 3 38585926 frameshift variant -/AC delins
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 1.000 4 2005 2017
dbSNP: rs794728914
rs794728914
SCN5A
1.000 0.080 3 38585895 frameshift variant AA/- delins
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 1.000 4 2003 2012
dbSNP: rs878855296
rs878855296
SCN5A
0.925 0.080 3 38613790 missense variant C/T snv 7.0E-06
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 1.000 4 2012 2015
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: rs199473172
rs199473172
SCN5A
0.925 0.080 3 38585800 missense variant C/A;T snv 4.0E-06
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 1.000 3 2010 2017
dbSNP: rs483353016
rs483353016
SCN5A
1.000 0.080 3 38562414 splice donor variant C/T snv 4.3E-06
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 1.000 3 1999 2012
dbSNP: rs727505158
rs727505158
SCN5A
0.925 0.080 3 38599005 frameshift variant G/- delins 1.4E-05
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 1.000 3 2010 2012
dbSNP: rs759235726
rs759235726
SCN5A
1.000 0.080 3 38622490 splice acceptor variant G/A snv 1.3E-05 2.8E-05
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 1.000 3 2010 2012
dbSNP: rs794728843
rs794728843
SCN5A
0.925 0.080 3 38620842 splice donor variant C/T snv 7.0E-06
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 1.000 3 2010 2014
dbSNP: rs863225273
rs863225273
SCN5A
1.000 0.080 3 38554320 stop gained C/T snv
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 1.000 3 2004 2010
dbSNP: rs869025522
rs869025522
SCN5A
1.000 0.080 3 38555719 inframe deletion TCT/- delins 7.0E-06
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 1.000 3 2009 2013
dbSNP: rs1060501135
rs1060501135
SCN5A
1.000 0.080 3 38581226 stop gained C/T snv
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 1.000 2 2010 2012
dbSNP: rs1553692660
rs1553692660
SCN5A
1.000 0.080 3 38550910 frameshift variant AG/- del
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 1.000 2 2009 2017
dbSNP: rs1553700699
rs1553700699
SCN5A
1.000 0.080 3 38586012 stop gained C/T snv
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 1.000 2 2005 2008
dbSNP: rs756159737
rs756159737
SCN5A
1.000 0.080 3 38581293 frameshift variant CT/- delins 1.6E-05
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 1.000 2 2010 2012
dbSNP: rs786204839
rs786204839
SCN5A
1.000 0.080 3 38605949 splice donor variant A/G;T snv
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 1.000 2 2010 2012
dbSNP: rs794728940
rs794728940
SCN5A
1.000 0.080 3 38550542 stop gained G/A snv 1.2E-05 3.5E-05
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 1.000 2 2014 2017