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: rs1010023
rs1010023
4 0.851 0.080 22 43940218 intron variant T/C snv 0.20 0.010 1.000 1 2017 2017
dbSNP: rs1042714
rs1042714
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 1.000 1 2001 2001
dbSNP: rs1057972
rs1057972
7 0.790 0.200 4 141733279 3 prime UTR variant A/T snv 0.54 0.010 1.000 1 2017 2017
dbSNP: rs10833
rs10833
10 0.776 0.160 4 141733394 3 prime UTR variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs1137100
rs1137100
39 0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25 0.010 1.000 1 2013 2013
dbSNP: rs11591147
rs11591147
28 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.010 1.000 1 2017 2017
dbSNP: rs11669576
rs11669576
6 0.851 0.160 19 11111624 missense variant G/A snv 4.3E-02 8.4E-02 0.010 1.000 1 2015 2015
dbSNP: rs121912666
rs121912666
34 0.645 0.360 17 7674872 missense variant T/C;G snv 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1229984
rs1229984
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.010 1.000 1 2018 2018
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: rs12785878
rs12785878
25 0.677 0.520 11 71456403 intron variant G/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs12980275
rs12980275
23 0.701 0.360 19 39241143 upstream gene variant A/G snv 0.36 0.010 1.000 1 2013 2013
dbSNP: rs13266634
rs13266634
23 0.724 0.480 8 117172544 missense variant C/A;T snv 0.29 0.010 1.000 1 2019 2019
dbSNP: rs13361189
rs13361189
13 0.752 0.240 5 150843825 upstream gene variant T/C snv 0.21 0.010 < 0.001 1 2019 2019
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: rs1800206
rs1800206
35 0.641 0.640 22 46218377 missense variant C/G snv 4.3E-02 4.2E-02 0.010 1.000 1 2005 2005
dbSNP: rs1800234
rs1800234
6 0.807 0.240 22 46219983 missense variant T/A;C snv 4.0E-06; 1.1E-02 0.010 1.000 1 2019 2019
dbSNP: rs1800588
rs1800588
16 0.790 0.200 15 58431476 intron variant C/G;T snv 0.30 0.010 1.000 1 2015 2015
dbSNP: rs1800777
rs1800777
17 0.724 0.280 16 56983407 missense variant G/A snv 3.7E-02 2.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs1800795
rs1800795
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 1.000 1 2016 2016
dbSNP: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2011 2011
dbSNP: rs2070666
rs2070666
4 0.882 0.120 11 116830958 intron variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.010 1.000 1 2018 2018