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: rs1136201
rs1136201
34 0.645 0.280 17 39723335 missense variant A/G;T snv 0.20 0.020 1.000 2 2014 2015
dbSNP: rs1045485
rs1045485
34 0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 0.010 < 0.001 1 2019 2019
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2016 2016
dbSNP: rs121913273
rs121913273
44 0.605 0.440 3 179218294 missense variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs121913279
rs121913279
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1442481831
rs1442481831
2 0.925 0.080 3 179203635 missense variant T/C snv 0.010 1.000 1 2018 2018
dbSNP: rs1484791833
rs1484791833
2 0.925 0.080 2 211713624 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs166870
rs166870
3 0.882 0.080 15 79777420 intergenic variant T/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs186919241
rs186919241
2 0.925 0.080 12 112502165 missense variant G/A snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs28933368
rs28933368
5 0.851 0.080 17 39725721 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs28934571
rs28934571
31 0.645 0.360 17 7674216 missense variant C/A;G snv 0.010 1.000 1 2019 2019
dbSNP: rs3746083
rs3746083
2 0.925 0.160 19 39408027 synonymous variant C/A;G;T snv 4.0E-06; 3.5E-02 0.010 1.000 1 2011 2011
dbSNP: rs387907158
rs387907158
3 0.882 0.160 12 112450475 stop gained A/T snv 0.010 1.000 1 2019 2019
dbSNP: rs749539903
rs749539903
9 0.827 0.120 17 39726987 missense variant G/A snv 8.4E-06 0.010 1.000 1 2016 2016
dbSNP: rs763059810
rs763059810
41 0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs759478535
rs759478535
6 0.851 0.080 17 39708351 missense variant A/G snv 6.8E-05 4.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs121434569
rs121434569
70 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.010 1.000 1 2018 2018
dbSNP: rs2227982
rs2227982
24 0.677 0.480 2 241851281 missense variant G/A snv 9.2E-02 4.3E-02 0.010 1.000 1 2016 2016
dbSNP: rs1799864
rs1799864
68 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 0.010 1.000 1 2016 2016
dbSNP: rs2293554
rs2293554
2 0.925 0.080 2 201266864 intron variant T/G snv 0.18 0.010 1.000 1 2016 2016
dbSNP: rs10825036
rs10825036
3 0.882 0.080 10 53506471 intergenic variant T/G snv 0.21 0.010 1.000 1 2015 2015
dbSNP: rs4919510
rs4919510
32 0.641 0.520 10 100975021 mature miRNA variant C/G snv 0.27 0.27 0.010 1.000 1 2012 2012
dbSNP: rs1130214
rs1130214
12 0.742 0.280 14 104793397 5 prime UTR variant C/A snv 0.31 0.010 1.000 1 2018 2018
dbSNP: rs2071002
rs2071002
3 0.882 0.080 6 3000069 5 prime UTR variant A/C snv 0.32 0.010 1.000 1 2018 2018
dbSNP: rs1058808
rs1058808
27 0.658 0.360 17 39727784 missense variant C/G snv 0.61 0.52 0.020 1.000 2 2013 2016