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: rs36211723
rs36211723
MYBPC3
5 0.851 0.080 11 47338520 missense variant C/G;T snv 1.6E-05 0.700 0
dbSNP: rs137854618
rs137854618
SCN5A
15 0.742 0.120 3 38566426 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1805124
rs1805124
SCN5A
16 0.742 0.280 3 38603929 missense variant T/C snv 0.22 0.25 0.010 1.000 1 2015 2015
dbSNP: rs185638763
rs185638763
SCN5A
4 0.882 0.120 3 38599001 missense variant G/A;T snv 1.2E-05 0.010 < 0.001 1 2018 2018
dbSNP: rs199473225
rs199473225
SCN5A
6 0.851 0.120 3 38560397 missense variant G/A;C snv 0.010 < 0.001 1 2018 2018
dbSNP: rs267607584
rs267607584
LMNA
1 1 156134821 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs267607622
rs267607622
LMNA
1 1 156130735 stop gained G/A;C;T snv 4.2E-06 0.010 1.000 1 2019 2019
dbSNP: rs58034145
rs58034145
LMNA
10 0.827 0.160 1 156134830 missense variant A/C snv 0.010 1.000 1 2017 2017
dbSNP: rs59270054
rs59270054
LMNA
6 0.925 0.120 1 156115162 missense variant G/A;C snv 0.010 1.000 1 2006 2006
dbSNP: rs60682848
rs60682848
LMNA
11 0.790 0.200 1 156134838 stop gained C/T snv 7.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs80338777
rs80338777
CACNA1S
10 0.827 0.200 1 201077915 missense variant C/A;T snv 1.2E-05 0.010 1.000 1 1997 1997