Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137854600
rs137854600
SCN5A
6 0.807 0.120 3 38551504 missense variant C/A;T snv 0.840 1.000 27 1995 2017
dbSNP: rs137854601
rs137854601
SCN5A
10 0.776 0.120 3 38551022 stop gained C/A;T snv 4.0E-06 0.820 1.000 25 1995 2018
dbSNP: rs137854614
rs137854614
SCN5A
3 0.882 0.120 3 38550988 missense variant T/C snv 0.810 1.000 25 1995 2017
dbSNP: rs199473283
rs199473283
SCN5A
2 1.000 0.120 3 38551495 missense variant C/A;G;T snv 4.0E-05 0.810 1.000 25 1995 2017
dbSNP: rs199473311
rs199473311
SCN5A
3 0.882 0.120 3 38551070 missense variant T/C snv 7.0E-06 0.810 1.000 24 1995 2017
dbSNP: rs199473603
rs199473603
SCN5A
3 0.882 0.120 3 38562467 missense variant G/A snv 1.8E-04 2.1E-04 0.810 1.000 24 1995 2015
dbSNP: rs137854605
rs137854605
SCN5A
2 1.000 0.120 3 38581337 missense variant GA/TT mnv 0.800 1.000 24 1995 2017
dbSNP: rs137854609
rs137854609
SCN5A
3 0.882 0.120 3 38581170 missense variant C/A;T snv 7.9E-05 0.800 1.000 24 1995 2017
dbSNP: rs199473310
rs199473310
SCN5A
2 1.000 0.120 3 38551076 missense variant T/A;C;G snv 0.800 1.000 24 1995 2017
dbSNP: rs28937316
rs28937316
SCN5A
3 0.882 0.120 3 38551441 missense variant C/A;T snv 4.0E-06 0.800 1.000 22 1995 2015
dbSNP: rs72549410
rs72549410
SCN5A
4 0.851 0.120 3 38606058 missense variant C/T snv 0.800 1.000 21 1995 2016
dbSNP: rs137854617
rs137854617
SCN5A
3 0.882 0.120 3 38581002 stop gained C/A;T snv 1.1E-04 1.5E-04 0.800 1.000 20 1995 2015
dbSNP: rs199473072
rs199473072
SCN5A
5 0.827 0.160 3 38613773 missense variant G/A snv 1.2E-05 8.4E-05 0.800 1.000 20 1995 2015
dbSNP: rs199473097
rs199473097
SCN5A
9 0.763 0.120 3 38606710 missense variant G/A snv 8.0E-06 7.0E-06 0.800 1.000 20 1995 2015
dbSNP: rs199473121
rs199473121
SCN5A
1 1.000 0.120 3 38603998 missense variant C/T snv 2.0E-05 7.0E-06 0.800 1.000 20 1995 2015
dbSNP: rs199473266
rs199473266
SCN5A
3 0.882 0.120 3 38555697 missense variant G/C snv 2.0E-05 0.800 1.000 20 1995 2015
dbSNP: rs28937317
rs28937317
SCN5A
3 0.882 0.120 3 38560418 missense variant T/C snv 0.800 1.000 20 1995 2015
dbSNP: rs45546039
rs45546039
SCN5A
15 0.732 0.120 3 38613781 missense variant C/A;T snv 4.1E-06 0.800 1.000 20 1995 2015
dbSNP: rs199473317
rs199473317
SCN5A
3 0.882 0.120 3 38551003 missense variant T/C snv 0.730 1.000 23 1995 2018
dbSNP: rs199473133
rs199473133
SCN5A
3 0.882 0.120 3 38603747 missense variant G/A snv 3.1E-05 6.3E-05 0.710 1.000 25 1995 2017
dbSNP: rs199473225
rs199473225
SCN5A
6 0.851 0.120 3 38560397 missense variant G/A;C snv 0.710 1.000 21 1995 2018
dbSNP: rs199473631
rs199473631
SCN5A
3 0.925 0.120 3 38551085 missense variant C/T snv 0.710 1.000 21 1995 2015
dbSNP: rs79299226
rs79299226
SCN5A
4 0.851 0.120 3 38550898 missense variant A/G snv 0.710 1.000 21 1995 2015
dbSNP: rs199473278
rs199473278
SCN5A
1 1.000 0.120 3 38554306 missense variant A/T snv 1.0E-04 9.1E-05 0.700 1.000 24 1995 2017
dbSNP: rs199473640
rs199473640
SCN5A
1 1.000 0.120 3 38550338 missense variant G/A snv 4.3E-05 2.1E-05 0.700 1.000 24 1995 2017