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: rs11708996
rs11708996
SCN5A
0.925 0.120 3 38592432 intron variant G/C snv 0.11
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.820 1.000 1 2013 2018
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: 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: 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: 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: rs199473284
rs199473284
SCN5A
0.925 0.120 3 38551487 stop gained G/A;C snv 8.0E-06
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 1.000 4 2007 2016
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: 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: 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: 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: 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: rs794728865
rs794728865
SCN5A
0.925 0.120 3 38585903 stop gained G/A 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
dbSNP: rs869025520
rs869025520
SCN5A
1.000 0.080 3 38579372 stop gained G/A snv
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 1.000 2 2002 2013
dbSNP: rs1553692734
rs1553692734
SCN5A
1.000 0.080 3 38550986 stop gained C/A snv
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 1.000 1 2013 2013
dbSNP: rs1553695282
rs1553695282
SCN5A
1.000 0.080 3 38560245 stop gained G/A snv
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 1.000 1 2010 2010
dbSNP: rs794728941
rs794728941
SCN5A
1.000 0.080 3 38550387 stop gained G/C;T snv 4.8E-06
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 1.000 1 2014 2014
dbSNP: rs1060501114
rs1060501114
SCN5A
1.000 0.080 3 38585842 stop gained C/T snv
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 0
dbSNP: rs1060501136
rs1060501136
SCN5A
1.000 0.080 3 38609764 stop gained C/A;T snv
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 0
dbSNP: rs1060501145
rs1060501145
SCN5A
1.000 0.080 3 38550944 stop gained C/A snv
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 0
dbSNP: rs1553607561
rs1553607561
SCN5A
1.000 0.080 3 38633104 stop gained A/T snv
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 0
dbSNP: rs1553699747
rs1553699747
SCN5A
1.000 0.080 3 38581191 stop gained G/A snv
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 0
dbSNP: rs1553704898
rs1553704898
SCN5A
1.000 0.080 3 38606688 stop gained C/T snv
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 0
dbSNP: rs1559720176
rs1559720176
SCN5A
1.000 0.080 3 38550773 stop gained C/A snv
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 0
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