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: rs765835441
rs765835441
RYR2
1 1.000 0.080 1 237726291 missense variant C/T snv 2.7E-05 2.1E-05 0.010 1.000 1 2011 2011
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: 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: 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: 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: 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: 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: 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: 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: rs3745297
rs3745297
HRC
10 0.790 0.120 19 49154952 missense variant A/C snv 0.41 0.38 0.050 1.000 5 2008 2017
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: 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