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: rs12457893
rs12457893
1 1.000 0.080 18 63258928 intron variant A/C snv 0.39 0.010 1.000 1 2012 2012
dbSNP: rs1800896
rs1800896
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.010 < 0.001 1 2019 2019
dbSNP: rs1955656
rs1955656
1 1.000 0.080 14 94579038 intron variant G/A snv 0.14 0.010 1.000 1 2017 2017
dbSNP: rs2093266
rs2093266
1 1.000 0.080 14 94566450 intron variant G/A snv 0.15 0.010 1.000 1 2017 2017
dbSNP: rs2233417
rs2233417
1 1.000 0.080 14 35402888 intron variant C/T snv 0.14 0.13 0.010 1.000 1 2015 2015
dbSNP: rs2430561
rs2430561
50 0.590 0.760 12 68158742 intron variant T/A snv 0.36 0.010 1.000 1 2014 2014
dbSNP: rs8094315
rs8094315
1 1.000 0.080 18 63268814 intron variant A/G snv 0.17 0.010 1.000 1 2012 2012
dbSNP: rs62341639
rs62341639
2 0.925 0.080 4 184238281 intergenic variant C/T snv 0.20 0.010 1.000 1 2017 2017
dbSNP: rs62341657
rs62341657
1 1.000 0.080 4 184238385 intergenic variant G/A snv 0.18 0.010 1.000 1 2017 2017
dbSNP: rs10854554
rs10854554
2 0.925 0.080 22 19623159 regulatory region variant A/G snv 0.18 0.010 1.000 1 2017 2017
dbSNP: rs9617814
rs9617814
1 1.000 0.080 22 19622420 regulatory region variant A/G snv 0.22 0.010 1.000 1 2017 2017
dbSNP: rs121907892
rs121907892
8 0.807 0.240 11 64593747 stop gained G/A;C snv 2.8E-04 0.030 1.000 3 2006 2011
dbSNP: rs782818582
rs782818582
3 0.882 0.160 9 133456116 stop gained C/T snv 1.2E-05 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.030 0.667 3 2013 2018
dbSNP: rs121907896
rs121907896
5 0.851 0.200 11 64591825 missense variant G/A snv 1.8E-04 8.4E-05 0.010 1.000 1 2007 2007
dbSNP: rs1370328347
rs1370328347
1 1.000 0.080 17 63895621 missense variant C/A;T snv 1.0E-05; 1.0E-05 0.010 1.000 1 2014 2014
dbSNP: rs1444669684
rs1444669684
36 0.658 0.480 9 21994285 missense variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2015 2015
dbSNP: rs1800470
rs1800470
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 1.000 1 2014 2014
dbSNP: rs1800471
rs1800471
48 0.597 0.840 19 41352971 missense variant C/G;T snv 5.6E-02 0.010 1.000 1 2014 2014
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: rs2276415
rs2276415
6 0.882 0.160 11 77590296 missense variant G/A snv 0.14 0.13 0.010 1.000 1 2016 2016
dbSNP: rs41507953
rs41507953
10 0.790 0.280 8 27500988 missense variant A/G snv 8.7E-02 0.13 0.010 1.000 1 2017 2017
dbSNP: rs561633150
rs561633150
2 0.925 0.200 4 9980627 missense variant C/T snv 6.1E-04 9.1E-05 0.010 1.000 1 2012 2012
dbSNP: rs753482595
rs753482595
3 0.925 0.200 4 9920389 missense variant T/C snv 8.0E-06 1.4E-05 0.010 1.000 1 2012 2012