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: 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: 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: rs1060501130
rs1060501130
SCN5A
1.000 0.080 3 38585690 splice donor variant C/A snv
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 0
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: 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: rs1060501142
rs1060501142
SCN5A
1.000 0.080 3 38633204 frameshift variant C/- delins
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: rs1064792926
rs1064792926
SCN5A
1.000 0.080 3 38581137 frameshift variant GGTGGCAATGCAG/- delins
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 0
dbSNP: rs1064795784
rs1064795784
SCN5A
1.000 0.080 3 38579477 frameshift variant A/- del
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 0
dbSNP: rs1131691708
rs1131691708
SCN5A
1.000 0.080 3 38633205 frameshift variant CG/- delins
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 0
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: 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: rs1377226524
rs1377226524
SCN5A
1.000 0.080 3 38606149 splice acceptor variant C/T snv 7.0E-06
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 0
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: 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: 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: 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
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: rs137854612
rs137854612
SCN5A
0.851 0.120 3 38560170 missense variant C/T snv
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: 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: 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: 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: 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: 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