Disease: Brugada Syndrome 1
Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs45546039
SCN5A
0.732 0.120 3 38613781 missense variant C/A;T snv 4.1E-06 10
rs199473097
SCN5A
0.763 0.120 3 38606710 missense variant G/A snv 8.0E-06 7.0E-06 9
rs757532106
SCN5A
0.763 0.120 3 38550500 stop gained G/A snv 4.5E-05 4.9E-05 9
rs137854618
SCN5A
0.742 0.120 3 38566426 missense variant C/A;T snv 8.0E-06 8
rs137854601
SCN5A
0.776 0.120 3 38551022 stop gained C/A;T snv 4.0E-06 6
rs137854600
SCN5A
0.807 0.120 3 38551504 missense variant C/A;T snv 4
rs137854612
SCN5A
0.851 0.120 3 38560170 missense variant C/T snv 4
rs199473072
SCN5A
0.827 0.160 3 38613773 missense variant G/A snv 1.2E-05 8.4E-05 4
rs199473282
SCN5A
0.827 0.120 3 38551513 missense variant G/A;T snv 4.0E-06 4
rs137854604
SCN5A
0.882 0.120 3 38551243 missense variant G/A snv 1.6E-05 7.0E-06 3
rs137854611
SCN5A
0.882 0.120 3 38597787 missense variant G/A;C;T snv 4.0E-06 3
rs199473062
SCN5A
0.827 0.120 3 38622401 stop gained C/A;G;T snv 4.1E-06 3
rs199473153
SCN5A
0.882 0.120 3 38597737 stop gained C/A;T snv 4.0E-06 3
rs199473220
SCN5A
0.882 0.120 3 38562422 missense variant C/A snv 4.2E-05 2.8E-05 3
rs199473225
SCN5A
0.851 0.120 3 38560397 missense variant G/A;C snv 3
rs199473266
SCN5A
0.882 0.120 3 38555697 missense variant G/C snv 2.0E-05 3
rs199473058
SCN5A
0.925 0.080 3 38630341 missense variant C/T snv 4.0E-06 2
rs199473101
SCN5A
0.925 0.080 3 38606682 missense variant C/A;T snv 8.1E-06 2
rs199473169
SCN5A
0.925 0.080 3 38585821 missense variant T/G snv 2
rs199473172
SCN5A
0.925 0.080 3 38585800 missense variant C/A;T snv 4.0E-06 2
rs199473292
SCN5A
0.925 0.080 3 38551391 missense variant C/G;T snv 2
rs199473305
SCN5A
0.925 0.080 3 38551145 missense variant C/T snv 1.4E-05 2
rs199473554
SCN5A
0.925 0.080 3 38630392 missense variant C/T snv 2
rs199473556
SCN5A
0.851 0.120 3 38630342 missense variant G/A snv 2
rs199473565
SCN5A
0.882 0.120 3 38606743 missense variant C/T snv 4.0E-06 7.0E-06 2