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: rs45546039
rs45546039
SCN5A
15 0.732 0.120 3 38613781 missense variant C/A;T snv 4.1E-06 0.700 1.000 10 2005 2015
dbSNP: rs137854618
rs137854618
SCN5A
15 0.742 0.120 3 38566426 missense variant C/A;T snv 8.0E-06 0.700 1.000 8 2003 2015
dbSNP: rs1805124
rs1805124
SCN5A
16 0.742 0.280 3 38603929 missense variant T/C snv 0.22 0.25 0.040 1.000 4 2004 2017
dbSNP: rs199473097
rs199473097
SCN5A
9 0.763 0.120 3 38606710 missense variant G/A snv 8.0E-06 7.0E-06 0.700 1.000 6 2002 2017
dbSNP: rs757532106
rs757532106
SCN5A
9 0.763 0.120 3 38550500 stop gained G/A snv 4.5E-05 4.9E-05 0.700 1.000 6 2005 2017
dbSNP: rs41261344
rs41261344
SCN5A
11 0.763 0.120 3 38575385 missense variant C/T snv 5.4E-03 2.2E-03 0.030 1.000 3 2005 2019
dbSNP: rs137854601
rs137854601
SCN5A
10 0.776 0.120 3 38551022 stop gained C/A;T snv 4.0E-06 0.720 1.000 18 1999 2018
dbSNP: rs3766871
rs3766871
RYR2
9 0.790 0.240 1 237614784 missense variant G/A;T snv 4.0E-02 0.010 1.000 1 2014 2014
dbSNP: rs137854600
rs137854600
SCN5A
6 0.807 0.120 3 38551504 missense variant C/A;T snv 0.700 1.000 7 1998 2010
dbSNP: rs12567209
rs12567209 		6 0.807 0.080 1 162066689 upstream gene variant G/A snv 8.6E-02 0.010 1.000 1 2014 2014
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: rs199473282
rs199473282
SCN5A
5 0.827 0.120 3 38551513 missense variant G/A;T snv 4.0E-06 0.740 1.000 13 1998 2015
dbSNP: rs199473062
rs199473062
SCN5A
5 0.827 0.120 3 38622401 stop gained C/A;G;T snv 4.1E-06 0.710 < 0.001 1 2005 2005
dbSNP: rs755660650
rs755660650
SLCO6A1
5 0.827 0.120 5 102498596 missense variant G/C snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs199473072
rs199473072
SCN5A
5 0.827 0.160 3 38613773 missense variant G/A snv 1.2E-05 8.4E-05 0.700 0
dbSNP: rs199473556
rs199473556
SCN5A
4 0.851 0.120 3 38630342 missense variant G/A snv 0.700 1.000 7 2009 2015
dbSNP: rs137854615
rs137854615
SCN5A
4 0.851 0.120 3 38550989 missense variant A/G snv 0.030 1.000 3 2001 2006
dbSNP: rs72549410
rs72549410
SCN5A
4 0.851 0.120 3 38606058 missense variant C/T snv 0.700 1.000 3 2000 2015
dbSNP: rs10494366
rs10494366
NOS1AP ; LOC105371475
7 0.851 0.200 1 162115895 intron variant G/T snv 0.54 0.010 1.000 1 2014 2014
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: rs199473225
rs199473225
SCN5A
6 0.851 0.120 3 38560397 missense variant G/A;C snv 0.700 1.000 1 2007 2007
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: rs41315493
rs41315493
SCN5A
4 0.851 0.120 3 38550521 missense variant C/A;T snv 6.6E-03; 9.7E-05 0.010 1.000 1 2004 2004
dbSNP: rs79299226
rs79299226
SCN5A
4 0.851 0.120 3 38550898 missense variant A/G snv 0.010 1.000 1 2002 2002