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: 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: 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: 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: 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: rs1553695847
rs1553695847
SCN5A
1.000 0.080 3 38562502 frameshift variant G/- del
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 0
dbSNP: rs1553699663
rs1553699663
SCN5A
1.000 0.080 3 38581078 frameshift variant C/- delins
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: 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: 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: 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: rs1559725687
rs1559725687
SCN5A
1.000 0.080 3 38554435 frameshift variant T/- delins
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 0
dbSNP: rs1559778838
rs1559778838
SCN5A
1.000 0.080 3 38609920 missense variant G/C snv
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 0
dbSNP: rs199473072
rs199473072
SCN5A
0.827 0.160 3 38613773 missense variant G/A snv 1.2E-05 8.4E-05
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 0
dbSNP: rs199473169
rs199473169
SCN5A
0.925 0.080 3 38585821 missense variant T/G snv
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.700 0
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