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: 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: 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: 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: 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: rs764772142
rs764772142
RYR2
2 0.925 0.080 1 237377349 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1049194905
rs1049194905
SCN5A
2 0.925 0.080 3 38604063 synonymous variant A/G snv 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: 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: 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: 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: 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
dbSNP: rs750678689
rs750678689
SCN5A
2 0.925 0.080 3 38566466 synonymous variant G/A snv 8.0E-06 2.1E-05 0.010 1.000 1 2020 2020