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: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 1.000 1 2008 2008
dbSNP: rs104894503
rs104894503
TPM1
9 0.776 0.160 15 63060899 missense variant G/A snv 1.6E-05 2.8E-05 0.010 1.000 1 2004 2004
dbSNP: rs104894580
rs104894580
KCNJ2
7 0.790 0.240 17 70175238 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs104894584
rs104894584
KCNJ2
5 0.851 0.120 17 70175553 missense variant G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs1049194905
rs1049194905
SCN5A
2 0.925 0.080 3 38604063 synonymous variant A/G snv 0.010 1.000 1 2020 2020
dbSNP: rs120074192
rs120074192
KCNQ1
10 0.763 0.120 11 2527959 missense variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs121918600
rs121918600
RYR2
5 0.882 0.080 1 237791441 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs121918604
rs121918604
RYR2
3 0.882 0.080 1 237798037 missense variant G/A;T snv 1.7E-05 0.010 1.000 1 2004 2004
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: rs1266360671
rs1266360671
RYR2
3 0.925 0.080 1 237270518 missense variant T/C snv 4.7E-06 0.010 1.000 1 2015 2015
dbSNP: rs1355262401
rs1355262401
GJA1
2 1.000 0.080 6 121447691 missense variant T/G snv 7.0E-06 0.010 1.000 1 2019 2019
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: rs1801253
rs1801253
ADRB1
34 0.683 0.440 10 114045297 missense variant G/C snv 0.74 0.69 0.010 1.000 1 2008 2008
dbSNP: rs1805120
rs1805120
KCNH2
3 0.882 0.080 7 150952443 synonymous variant G/A snv 0.30 0.26 0.010 1.000 1 2020 2020
dbSNP: rs1805127
rs1805127
KCNE1
17 0.732 0.240 21 34449523 missense variant T/C snv 0.64 2.0E-04 0.010 1.000 1 2016 2016
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: rs1860561
rs1860561
ATP2A2
5 0.851 0.080 12 110345436 intron variant G/A snv 0.19 0.010 1.000 1 2013 2013
dbSNP: rs192749597
rs192749597
CACNA1C ; CACNA1C-AS1
3 0.882 0.080 12 2679712 missense variant C/T snv 9.2E-04 3.5E-03 0.010 1.000 1 2018 2018
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: rs201698592
rs201698592
KCNQ1 ; KCNQ1-AS1
2 0.925 0.080 11 2847916 synonymous variant C/T snv 1.7E-04 2.8E-05 0.010 1.000 1 2020 2020
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: rs5443
rs5443
GNB3 ; CDCA3
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.010 1.000 1 2006 2006
dbSNP: rs56984562
rs56984562
LMNA
6 0.827 0.200 1 156137666 missense variant C/A;G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs59301204
rs59301204
LMNA
4 0.925 0.080 1 156135956 missense variant G/A;C snv 1.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs740952
rs740952
KCNH2
2 0.925 0.080 7 150952515 synonymous variant G/A;T snv 0.30; 7.2E-05 0.010 1.000 1 2020 2020