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: rs184442491
rs184442491
SCN5A
2 1.000 0.120 3 38603888 missense variant C/A snv 2.1E-04 7.7E-04 0.010 1.000 1 2020 2020
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: rs200484060
rs200484060
DSG2
4 1.000 18 31536370 missense variant T/G snv 5.6E-05 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs779640835
rs779640835
RYR2
2 1.000 0.040 1 237566723 missense variant C/A;T snv 4.0E-06; 2.8E-05 0.010 1.000 1 2019 2019
dbSNP: rs104893714
rs104893714
CAV3 ; SSUH2
3 0.925 0.120 3 8745701 missense variant T/G snv 0.010 1.000 1 2018 2018
dbSNP: rs143624519
rs143624519
MAPT
17 0.724 0.240 17 45991484 missense variant G/A;T snv 1.5E-03; 1.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs755373114
rs755373114
ANK2
3 0.925 0.080 4 113341742 missense variant A/C snv 7.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs120074195
rs120074195
KCNQ1
3 0.925 0.120 11 2572984 missense variant G/A;C snv 0.010 1.000 1 2017 2017
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 2017 2017
dbSNP: rs79023478
rs79023478
OBSCN
2 1.000 0.040 1 228315865 missense variant G/A snv 8.4E-03 3.0E-02 0.010 1.000 1 2017 2017
dbSNP: rs794728721
rs794728721
RYR2
3 0.925 0.080 1 237445489 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs10757278
rs10757278
CDKN2B-AS1
44 0.620 0.520 9 22124478 intron variant A/G snv 0.40 0.010 1.000 1 2016 2016
dbSNP: rs137854602
rs137854602
SCN5A
5 0.925 0.080 3 38555664 missense variant G/A snv 5.6E-05 1.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs150821281
rs150821281
PKP2
7 0.827 0.080 12 32878461 missense variant G/A snv 2.3E-03 2.5E-03 0.010 1.000 1 2016 2016
dbSNP: rs199472708
rs199472708
KCNQ1
4 0.882 0.080 11 2572015 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs35530544
rs35530544
ANK2
2 1.000 0.080 4 113367751 missense variant C/A snv 2.5E-03 1.0E-02 0.010 1.000 1 2016 2016
dbSNP: rs372827955
rs372827955
TBX5
2 1.000 0.080 12 114356026 missense variant G/A snv 4.4E-05 2.8E-05 0.010 1.000 1 2016 2016
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: rs869025337
rs869025337
BVES
5 0.925 0.120 6 105124593 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs879253730
rs879253730
SCN3B
2 11 123642468 missense variant G/C snv 0.700 1.000 1 2016 2016
dbSNP: rs121918602
rs121918602
RYR2
3 0.925 0.120 1 237454396 missense variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs121918606
rs121918606
RYR2
3 0.925 0.080 1 237819181 missense variant C/G snv 0.010 1.000 1 2015 2015
dbSNP: rs1249958
rs1249958
PPP1R1A
3 0.925 0.040 12 54582053 missense variant C/T snv 2.7E-02 0.010 1.000 1 2015 2015
dbSNP: rs2200733
rs2200733 		12 0.752 0.240 4 110789013 intergenic variant C/T snv 0.18 0.010 1.000 1 2015 2015
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