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: rs4879809
rs4879809
3 0.882 0.120 9 34635601 3 prime UTR variant T/A;C;G snv 1.1E-03; 1.00 0.010 1.000 1 2015 2015
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 < 0.001 1 2011 2011
dbSNP: rs1801132
rs1801132
22 0.689 0.320 6 151944387 synonymous variant G/C snv 0.73 0.80 0.010 1.000 1 2014 2014
dbSNP: rs5930
rs5930
8 0.827 0.200 19 11113589 synonymous variant A/G snv 0.63 0.66 0.010 1.000 1 2017 2017
dbSNP: rs5882
rs5882
35 0.649 0.400 16 56982180 missense variant G/A;C snv 0.62 0.030 1.000 3 2010 2017
dbSNP: rs2281983
rs2281983
4 0.851 0.080 10 102231624 missense variant G/A;C;T snv 0.62; 8.3E-06 0.010 1.000 1 2017 2017
dbSNP: rs440446
rs440446
8 0.807 0.200 19 44905910 missense variant C/G;T snv 0.60 0.010 < 0.001 1 2019 2019
dbSNP: rs6332
rs6332
4 0.851 0.080 12 5494466 synonymous variant G/A;T snv 0.49; 3.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs1044396
rs1044396
17 0.742 0.240 20 63349782 missense variant G/A;C snv 0.47; 6.1E-05 0.010 1.000 1 2012 2012
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.020 1.000 2 2008 2012
dbSNP: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.010 1.000 1 2003 2003
dbSNP: rs2228145
rs2228145
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs662
rs662
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.020 1.000 2 2013 2018
dbSNP: rs6330
rs6330
12 0.763 0.240 1 115286692 missense variant G/A snv 0.37 0.36 0.010 1.000 1 2011 2011
dbSNP: rs854560
rs854560
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 1.000 1 2018 2018
dbSNP: rs6688832
rs6688832
10 0.752 0.440 1 9263851 missense variant G/A;C snv 0.28; 1.2E-04 0.010 1.000 1 2007 2007
dbSNP: rs6347
rs6347
4 0.851 0.080 5 1411297 synonymous variant T/C snv 0.23 0.32 0.010 1.000 1 2012 2012
dbSNP: rs5186
rs5186
38 0.630 0.560 3 148742201 3 prime UTR variant A/C snv 0.23 0.21 0.010 1.000 1 2017 2017
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2004 2004
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.060 1.000 6 2011 2019
dbSNP: rs1805054
rs1805054
17 0.708 0.200 1 19666020 synonymous variant C/T snv 0.15; 8.0E-06 0.16 0.010 1.000 1 2001 2001
dbSNP: rs429358
rs429358
66 0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 0.030 1.000 3 2001 2018
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.020 1.000 2 2010 2011
dbSNP: rs2298813
rs2298813
7 0.790 0.120 11 121522975 missense variant G/A;T snv 7.2E-02; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1801474
rs1801474
4 0.851 0.080 6 162201165 missense variant C/T snv 7.1E-02 5.3E-02 0.010 1.000 1 2020 2020