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: rs397517025
rs397517025
PKP2
2 0.925 0.120 12 32878984 frameshift variant TGTA/- del 0.700 0
dbSNP: rs587782927
rs587782927
DSP
4 0.882 0.080 6 7574084 splice region variant AG/- delins 0.700 0
dbSNP: rs727504432
rs727504432
PKP2
3 0.882 0.120 12 32792712 frameshift variant T/- delins 0.700 0
dbSNP: rs868789318
rs868789318
MYH7
1 1.000 0.080 14 23424867 missense variant C/T snv 0.700 0
dbSNP: rs104894585
rs104894585
KCNJ2
5 0.851 0.120 17 70175263 missense variant C/G;T snv 0.020 1.000 2 2006 2007
dbSNP: rs1036553117
rs1036553117
PKP2
1 1.000 0.080 12 32850771 missense variant A/T snv 0.010 1.000 1 2011 2011
dbSNP: rs12143842
rs12143842 		3 0.925 0.160 1 162064100 intergenic variant C/T snv 0.22 0.010 1.000 1 2017 2017
dbSNP: rs121912512
rs121912512
KCNH2
3 0.882 0.120 7 150950311 missense variant C/T snv 4.0E-06 1.4E-05 0.010 1.000 1 2003 2003
dbSNP: rs137854539
rs137854539
GNAS
28 0.716 0.520 20 58903703 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs1407369744
rs1407369744
ACTN2
2 1.000 0.080 1 236739384 missense variant T/G snv 8.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1460922
rs1460922
FGF12
1 1.000 0.080 3 192143732 3 prime UTR variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs149868494
rs149868494
SCN4B
2 0.925 0.080 11 118152652 missense variant C/T snv 4.1E-04 8.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs17852067
rs17852067
FGF12
1 1.000 0.080 3 192144109 missense variant G/T snv 0.010 1.000 1 2017 2017
dbSNP: rs199472954
rs199472954
KCNH2
3 0.882 0.120 7 150951514 missense variant A/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs199473039
rs199473039
KCNH2
4 0.851 0.120 7 150951512 missense variant G/A;C;T snv 9.5E-05 0.010 1.000 1 2008 2008
dbSNP: rs199473244
rs199473244
SCN5A
4 0.851 0.120 3 38557251 missense variant C/A snv 0.010 1.000 1 2014 2014
dbSNP: rs199473556
rs199473556
SCN5A
4 0.851 0.120 3 38630342 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs200034939
rs200034939
SCN5A
3 0.882 0.080 3 38557248 missense variant C/A snv 3.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs200745877
rs200745877
DSP
1 1.000 0.080 6 7580307 missense variant A/G snv 6.8E-05 6.3E-05 0.010 1.000 1 2011 2011
dbSNP: rs2686464
rs2686464
FGF12
1 1.000 0.080 3 192402184 intron variant A/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs374090960
rs374090960
KCNQ1
1 1.000 0.080 11 2587631 missense variant G/A snv 1.6E-05 1.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs374528680
rs374528680
CACNA1C ; CACNA1C-AS1
5 0.851 0.240 12 2686216 missense variant G/A;C snv 4.0E-06; 6.0E-05 0.010 1.000 1 2016 2016
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 2015 2015
dbSNP: rs3825214
rs3825214
TBX5
8 0.851 0.080 12 114357638 intron variant G/A snv 0.77 0.010 1.000 1 2013 2013
dbSNP: rs4687326
rs4687326
FGF12
1 1.000 0.080 3 192359428 intron variant C/T snv 0.21 0.010 1.000 1 2017 2017