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: rs12720452
rs12720452
SCN5A
5 0.882 0.120 3 38603758 missense variant C/T snv 2.9E-04 2.9E-04 0.700 0
dbSNP: rs137854604
rs137854604
SCN5A
3 0.882 0.120 3 38551243 missense variant G/A snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs137854620
rs137854620
SCN5A
1 1.000 0.080 3 38557268 stop gained C/T snv 0.700 0
dbSNP: rs1553605932
rs1553605932
SCN5A
1 1.000 0.080 3 38622414 stop gained C/T snv 0.700 0
dbSNP: rs1559727990
rs1559727990
SCN5A
1 1.000 0.080 3 38555727 stop gained G/A snv 0.700 0
dbSNP: rs1559729142
rs1559729142
SCN5A
1 1.000 0.080 3 38556566 missense variant G/A snv 0.700 0
dbSNP: rs199473119
rs199473119
SCN5A
7 0.790 0.120 3 38604035 missense variant G/A;T snv 8.4E-06; 4.2E-06 0.700 0
dbSNP: rs397514252
rs397514252
SCN5A
1 1.000 0.080 3 38620838 splice donor variant -/TT delins 0.700 0
dbSNP: rs397514446
rs397514446
SCN5A
1 1.000 0.080 3 38560202 frameshift variant T/- delins 0.700 0
dbSNP: rs397514449
rs397514449
SCN5A
2 0.925 0.120 3 38550984 protein altering variant -/CAT delins 0.700 0
dbSNP: rs41261344
rs41261344
SCN5A
11 0.763 0.120 3 38575385 missense variant C/T snv 5.4E-03 2.2E-03 0.700 0
dbSNP: rs45514691
rs45514691
SCN5A
1 1.000 0.080 3 38554345 missense variant G/A;T snv 8.0E-06 0.700 0
dbSNP: rs45609733
rs45609733
SCN5A
2 0.925 0.120 3 38598998 missense variant G/A snv 4.0E-05 1.9E-04 0.700 0
dbSNP: rs587781159
rs587781159
SCN5A
1 1.000 0.080 3 38622447 stop gained G/A;T snv 1.5E-04 3.5E-05 0.700 0
dbSNP: rs727505158
rs727505158
SCN5A
2 0.925 0.080 3 38599005 frameshift variant G/- delins 1.4E-05 0.700 0
dbSNP: rs757532106
rs757532106
SCN5A
9 0.763 0.120 3 38550500 stop gained G/A snv 4.5E-05 4.9E-05 0.700 0
dbSNP: rs765669597
rs765669597
SCN5A
4 0.851 0.120 3 38614063 stop gained A/C;T snv 4.7E-06 0.700 0
dbSNP: rs794728843
rs794728843
SCN5A
2 0.925 0.080 3 38620842 splice donor variant C/T snv 7.0E-06 0.700 0
dbSNP: rs794728922
rs794728922
SCN5A
1 1.000 0.080 3 38560250 inframe deletion GTT/- delins 0.700 0
dbSNP: rs886037903
rs886037903
SCN5A
1 1.000 0.080 3 38551015 frameshift variant AG/- del 0.700 0
dbSNP: rs886037904
rs886037904
SCN5A
2 0.925 0.080 3 38554272 coding sequence variant -/CCAC delins 0.700 1.000 2 2005 2005
dbSNP: rs1060499900
rs1060499900
SCN5A
2 0.925 0.080 3 38551304 missense variant C/T snv 4.0E-06 1.4E-05 0.700 1.000 1 2013 2013
dbSNP: rs185492581
rs185492581
SCN5A
1 1.000 0.080 3 38630327 stop gained T/A;C snv 7.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs3918389
rs3918389
SCN5A
1 1.000 0.080 3 38603948 missense variant C/A;G;T snv 1.2E-05; 2.0E-05 0.700 1.000 1 2013 2013
dbSNP: rs45471994
rs45471994
SCN5A
2 0.925 0.080 3 38613752 missense variant C/T snv 1.1E-04 4.0E-04 0.700 1.000 1 2013 2013