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: 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: 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: 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: 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: rs794728898
rs794728898
SCN5A
0.925 0.120 3 38550826 missense variant T/C snv
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 0
dbSNP: rs794728924
rs794728924
SCN5A
1.000 0.080 3 38550905 frameshift variant ACAG/- delins 4.0E-06
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 1.000 1 2015 2015
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: 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: rs1060501127
rs1060501127
SCN5A
1.000 0.080 3 38550952 frameshift variant AGTG/- delins
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 0
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: rs1559720870
rs1559720870
SCN5A
1.000 0.080 3 38550987 frameshift variant TA/- delins
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 0
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: rs1559720961
rs1559720961
SCN5A
1.000 0.080 3 38551008 frameshift variant CTCA/- delins
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 0
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: 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: rs1559721331
rs1559721331
SCN5A
1.000 0.080 3 38551093 missense variant A/C snv
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 0
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: 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: rs199473292
rs199473292
SCN5A
0.925 0.080 3 38551391 missense variant C/G;T snv
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 0
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: 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: 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: 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: 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: rs863224533
rs863224533
SCN5A
1.000 0.080 3 38551525 stop gained AAG/TAC mnv
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 0