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: rs12137855
rs12137855
3 0.882 0.040 1 219275036 downstream gene variant C/T snv 0.19 0.020 1.000 2 2013 2017
dbSNP: rs12743824
rs12743824
2 0.925 0.040 1 99317401 intergenic variant C/A snv 0.48 0.010 1.000 1 2015 2015
dbSNP: rs12784396
rs12784396
4 0.925 0.040 10 100267650 5 prime UTR variant C/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1346324047
rs1346324047
LPA
1 1.000 0.040 6 160640717 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs1420472625
rs1420472625
2 0.925 0.040 19 54178800 missense variant G/C snv 0.010 1.000 1 2018 2018
dbSNP: rs2290602
rs2290602
3 0.882 0.040 4 23824109 intron variant T/A;G snv 0.010 1.000 1 2008 2008
dbSNP: rs2294918
rs2294918
3 0.925 0.040 22 43946236 missense variant A/G snv 0.68 0.70 0.010 1.000 1 2016 2016
dbSNP: rs2862954
rs2862954
2 0.925 0.040 10 100152307 missense variant T/C snv 0.34 0.32 0.010 1.000 1 2013 2013
dbSNP: rs4240624
rs4240624
5 0.882 0.040 8 9326721 intron variant G/A snv 0.87 0.010 1.000 1 2013 2013
dbSNP: rs738491
rs738491
3 0.882 0.040 22 43958231 intron variant C/T snv 0.34 0.010 1.000 1 2015 2015
dbSNP: rs74315468
rs74315468
3 0.882 0.040 22 50626841 missense variant G/A snv 4.0E-06 2.8E-05 0.010 1.000 1 2013 2013
dbSNP: rs748204991
rs748204991
1 1.000 0.040 11 130196396 missense variant G/A snv 2.1E-05 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs772114791
rs772114791
1 1.000 0.040 1 55052343 missense variant G/A snv 8.0E-06 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs951599607
rs951599607
4 0.925 0.040 3 12434028 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs1010023
rs1010023
4 0.851 0.080 22 43940218 intron variant T/C snv 0.20 0.010 1.000 1 2017 2017
dbSNP: rs17007417
rs17007417
3 0.882 0.080 2 71808541 regulatory region variant T/C snv 0.85 0.700 1.000 1 2018 2018
dbSNP: rs2143571
rs2143571
5 0.827 0.080 22 43995806 intron variant G/A snv 0.25 0.700 1.000 1 2018 2018
dbSNP: rs56225452
rs56225452
5 0.851 0.080 19 58513279 upstream gene variant C/T snv 0.18 0.010 1.000 1 2010 2010
dbSNP: rs2645424
rs2645424
5 0.827 0.120 8 11826954 intron variant A/C;G snv 0.56 0.020 1.000 2 2013 2014
dbSNP: rs2070666
rs2070666
4 0.882 0.120 11 116830958 intron variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs3213445
rs3213445
4 0.851 0.120 22 50577409 missense variant T/C snv 0.12 8.9E-02 0.010 1.000 1 2013 2013
dbSNP: rs3829251
rs3829251
8 0.851 0.120 11 71483513 intron variant G/A snv 0.21 0.010 1.000 1 2018 2018
dbSNP: rs779021719
rs779021719
5 0.827 0.120 19 35284962 stop gained C/G;T snv 9.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs879254597
rs879254597
4 0.851 0.120 19 11105528 stop gained G/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs2896019
rs2896019
10 0.790 0.160 22 43937814 intron variant T/G snv 0.20 0.710 1.000 2 2012 2018