Gene: SCN5A ×
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: rs7626962
rs7626962
SCN5A
10 0.790 0.080 3 38579416 missense variant G/A;T snv 1.6E-05; 5.9E-03 0.020 1.000 2 2002 2011
dbSNP: rs1049194905
rs1049194905
SCN5A
2 0.925 0.080 3 38604063 synonymous variant A/G snv 0.010 1.000 1 2020 2020
dbSNP: rs1237080661
rs1237080661
SCN5A
2 0.925 0.080 3 38604780 stop gained A/G;T snv 2.8E-05 0.010 1.000 1 2020 2020
dbSNP: rs137854600
rs137854600
SCN5A
6 0.807 0.120 3 38551504 missense variant C/A;T snv 0.010 1.000 1 2004 2004
dbSNP: rs184934308
rs184934308
SCN5A
2 0.925 0.080 3 38575342 synonymous variant G/A snv 4.1E-04 9.1E-05 0.010 1.000 1 2020 2020
dbSNP: rs199473605
rs199473605
SCN5A
7 0.851 0.120 3 38560374 missense variant C/G;T snv 4.8E-05; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs45546039
rs45546039
SCN5A
15 0.732 0.120 3 38613781 missense variant C/A;T snv 4.1E-06 0.010 1.000 1 2018 2018
dbSNP: rs750678689
rs750678689
SCN5A
2 0.925 0.080 3 38566466 synonymous variant G/A snv 8.0E-06 2.1E-05 0.010 1.000 1 2020 2020