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: rs1391441
rs1391441
11 0.763 0.240 4 105207603 intron variant G/A snv 0.70 0.010 1.000 1 2015 2015
dbSNP: rs1456896
rs1456896
5 0.882 0.200 7 50264865 upstream gene variant C/T snv 0.67 0.010 1.000 1 2017 2017
dbSNP: rs1635564
rs1635564
2 0.925 0.160 1 17357031 intron variant T/A;G snv 0.010 1.000 1 2019 2019
dbSNP: rs17008504
rs17008504
1 1.000 0.160 4 124718662 intergenic variant T/A snv 4.3E-02 0.010 1.000 1 2015 2015
dbSNP: rs172378
rs172378
11 0.790 0.240 1 22638945 synonymous variant A/G snv 0.49 0.51 0.010 1.000 1 2015 2015
dbSNP: rs1799964
rs1799964
47 0.608 0.760 6 31574531 upstream gene variant T/C snv 0.19 0.010 1.000 1 2018 2018
dbSNP: rs2004640
rs2004640
26 0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 0.010 < 0.001 1 2010 2010
dbSNP: rs2157257
rs2157257
1 1.000 0.160 22 36312293 intron variant A/G snv 0.52 0.010 1.000 1 2012 2012
dbSNP: rs2246614
rs2246614
3 0.882 0.160 11 619789 missense variant T/G snv 0.63 0.59 0.010 1.000 1 2011 2011
dbSNP: rs2271100
rs2271100
AGA
1 1.000 0.160 4 177438525 intron variant T/C snv 0.19 0.010 1.000 1 2015 2015
dbSNP: rs2275913
rs2275913
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.010 < 0.001 1 2016 2016
dbSNP: rs2295415
rs2295415
3 0.882 0.160 10 35212510 3 prime UTR variant A/G snv 0.19 0.010 1.000 1 2015 2015
dbSNP: rs2298804
rs2298804
4 0.851 0.240 1 159304102 missense variant A/G;T snv 6.6E-03 0.010 < 0.001 1 2013 2013
dbSNP: rs2397084
rs2397084
14 0.716 0.480 6 52237046 missense variant T/C snv 6.7E-02 6.1E-02 0.010 < 0.001 1 2016 2016
dbSNP: rs28940579
rs28940579
13 0.732 0.440 16 3243310 missense variant A/G;T snv 2.2E-03; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs292001
rs292001
6 0.807 0.320 1 22638465 intron variant G/A snv 0.54 0.010 1.000 1 2015 2015
dbSNP: rs329498
rs329498
3 0.882 0.200 2 64100410 synonymous variant G/A;C;T snv 8.0E-06; 0.34 0.010 1.000 1 2016 2016
dbSNP: rs352139
rs352139
18 0.732 0.320 3 52224356 intron variant T/C snv 0.51 0.54 0.010 1.000 1 2010 2010
dbSNP: rs3743930
rs3743930
43 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.010 1.000 1 2015 2015
dbSNP: rs3746444
rs3746444
105 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 0.010 1.000 1 2017 2017
dbSNP: rs3792192
rs3792192
2 0.925 0.160 2 160030364 intron variant G/A snv 0.35 0.010 1.000 1 2016 2016
dbSNP: rs3824662
rs3824662
11 0.752 0.320 10 8062245 intron variant C/A;T snv 0.010 < 0.001 1 2018 2018
dbSNP: rs396991
rs396991
14 0.742 0.480 1 161544752 missense variant A/C;G;T snv 0.33; 4.1E-06 0.010 1.000 1 2013 2013
dbSNP: rs434082
rs434082
3 0.925 0.160 2 40257934 intron variant C/T snv 0.14 0.010 1.000 1 2015 2015
dbSNP: rs4664308
rs4664308
4 0.851 0.160 2 160060986 intron variant A/G snv 0.30 0.010 1.000 1 2016 2016