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: rs397514450
rs397514450
SCN5A
2 0.925 0.080 3 38585926 frameshift variant -/AC delins 0.700 1.000 4 2005 2017
dbSNP: rs886037904
rs886037904
SCN5A
2 0.925 0.080 3 38554272 coding sequence variant -/CCAC delins 0.700 1.000 2 2005 2005
dbSNP: rs1064795784
rs1064795784
SCN5A
1 1.000 0.080 3 38579477 frameshift variant A/- del 0.700 0
dbSNP: rs199473092
rs199473092
SCN5A
3 0.925 0.080 3 38608175 missense variant A/C snv 0.010 1.000 1 2005 2005
dbSNP: rs1559721331
rs1559721331
SCN5A
1 1.000 0.080 3 38551093 missense variant A/C snv 0.700 0
dbSNP: rs137854615
rs137854615
SCN5A
4 0.851 0.120 3 38550989 missense variant A/G snv 0.030 1.000 3 2001 2006
dbSNP: rs11129801
rs11129801
SCN10A
1 1.000 0.080 3 38708884 intron variant A/G snv 0.71 0.700 1.000 1 2013 2013
dbSNP: rs121918282
rs121918282
SCN3B ; LOC105369543
3 0.882 0.080 11 123653773 missense variant A/G snv 2.0E-04 3.5E-04 0.010 < 0.001 1 2009 2009
dbSNP: rs199473229
rs199473229
SCN5A
4 0.882 0.120 3 38560361 missense variant A/G snv 0.010 1.000 1 2006 2006
dbSNP: rs6795970
rs6795970
SCN10A
13 0.807 0.200 3 38725184 missense variant A/G snv 0.65 0.70 0.700 1.000 1 2013 2013
dbSNP: rs7641844
rs7641844
SCN10A
1 1.000 0.080 3 38760760 intron variant A/G snv 0.33 0.31 0.700 1.000 1 2013 2013
dbSNP: rs79299226
rs79299226
SCN5A
4 0.851 0.120 3 38550898 missense variant A/G snv 0.010 1.000 1 2002 2002
dbSNP: rs9874633
rs9874633
SCN10A
1 1.000 0.080 3 38730503 intron variant A/G snv 0.38 0.700 1.000 1 2013 2013
dbSNP: rs786204839
rs786204839
SCN5A
1 1.000 0.080 3 38605949 splice donor variant A/G;T snv 0.700 1.000 2 2010 2012
dbSNP: rs12638572
rs12638572
SCN10A
1 1.000 0.080 3 38746306 intron variant A/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs199473315
rs199473315
SCN5A
2 0.925 0.120 3 38551015 missense variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs775234338
rs775234338
SCN5A
1 1.000 0.080 3 38585806 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1064794243
rs1064794243
SCN4A
5 0.851 0.200 17 63941169 missense variant A/T snv 0.010 1.000 1 2005 2005
dbSNP: rs199473124
rs199473124
SCN5A
4 0.851 0.120 3 38603902 missense variant A/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs1553607561
rs1553607561
SCN5A
1 1.000 0.080 3 38633104 stop gained A/T snv 0.700 0
dbSNP: rs794728914
rs794728914
SCN5A
1 1.000 0.080 3 38585895 frameshift variant AA/- delins 0.700 1.000 4 2003 2012
dbSNP: rs749697698
rs749697698
SCN5A
3 0.882 0.120 3 38551520 inframe deletion AAG/- delins 2.0E-05 0.700 1.000 8 2000 2017
dbSNP: rs863224533
rs863224533
SCN5A
1 1.000 0.080 3 38551525 stop gained AAG/TAC mnv 0.700 0
dbSNP: rs794728924
rs794728924
SCN5A
1 1.000 0.080 3 38550905 frameshift variant ACAG/- delins 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs1553692660
rs1553692660
SCN5A
1 1.000 0.080 3 38550910 frameshift variant AG/- del 0.700 1.000 2 2009 2017