Source: CLINVAR

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
rs757532106
SCN5A
0.763 0.120 3 38550500 stop gained G/A snv 4.5E-05 4.9E-05 9
rs199473097
SCN5A
0.763 0.120 3 38606710 missense variant G/A snv 8.0E-06 7.0E-06 9
rs199473119
SCN5A
0.790 0.120 3 38604035 missense variant G/A;T snv 8.4E-06; 4.2E-06 7
rs137854601
SCN5A
0.776 0.120 3 38551022 stop gained C/A;T snv 4.0E-06 6
rs137854618
SCN5A
0.742 0.120 3 38566426 missense variant C/A;T snv 8.0E-06 5
rs137854612
SCN5A
0.851 0.120 3 38560170 missense variant C/T snv 4
rs765669597
SCN5A
0.851 0.120 3 38614063 stop gained A/C;T snv 4.7E-06 4
rs727504801
SCN5A
0.925 0.080 3 38560397 frameshift variant G/- delins 3
rs72549410
SCN5A
0.851 0.120 3 38606058 missense variant C/T snv 3
rs749697698
SCN5A
0.882 0.120 3 38551520 inframe deletion AAG/- delins 2.0E-05 3
rs199473603
SCN5A
0.882 0.120 3 38562467 missense variant G/A snv 1.8E-04 2.1E-04 3
rs7626962
SCN5A
0.790 0.080 3 38579416 missense variant G/A;T snv 1.6E-05; 5.9E-03 3
rs137854600
SCN5A
0.807 0.120 3 38551504 missense variant C/A;T snv 3
rs137854607
SCN5A
0.882 0.120 3 38554309 missense variant C/G;T snv 3
rs137854617
SCN5A
0.882 0.120 3 38581002 stop gained C/A;T snv 1.1E-04 1.5E-04 3
rs199473620
SCN5A
1.000 0.080 3 38554372 stop gained C/A;T snv 2
rs786205271
SCN5A
1.000 0.080 3 38551159 missense variant G/A;C snv 4.0E-06 2
rs199473161
SCN5A
1.000 0.080 3 38586038 missense variant G/A;T snv 2
rs794728865
SCN5A
0.925 0.120 3 38585903 stop gained G/A snv 2
rs1417036453
SCN5A
0.925 0.080 3 38603999 stop gained G/A snv 4.0E-06 2
rs794728879
SCN5A
0.925 0.120 3 38560146 splice donor variant C/A;G;T snv 2
rs794728846
SCN5A
0.925 0.120 3 38620972 splice acceptor variant C/T snv 2
rs137854611
SCN5A
0.882 0.120 3 38597787 missense variant G/A;C;T snv 4.0E-06 2
rs199473565
SCN5A
0.882 0.120 3 38606743 missense variant C/T snv 4.0E-06 7.0E-06 2