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: rs4331426
rs4331426
2 0.925 0.080 18 22610832 intergenic variant G/A snv 0.86 0.880 0.778 9 2010 2016
dbSNP: rs2057178
rs2057178
1 1.000 0.040 11 32342641 intron variant G/A snv 0.18 0.830 0.800 5 2012 2016
dbSNP: rs1495741
rs1495741
9 0.827 0.240 8 18415371 regulatory region variant G/A snv 0.71 0.710 1.000 2 2016 2019
dbSNP: rs1024611
rs1024611
63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2015 2015
dbSNP: rs1075309
rs1075309
1 1.000 0.040 2 5113465 intergenic variant C/T snv 0.20 0.800 1.000 1 2014 2014
dbSNP: rs11031728
rs11031728
1 1.000 0.040 11 32342070 intron variant C/G snv 0.18 0.700 1.000 1 2012 2012
dbSNP: rs11031731
rs11031731
3 0.925 0.040 11 32343884 upstream gene variant G/A snv 0.18 0.700 1.000 1 2012 2012
dbSNP: rs12437118
rs12437118
1 1.000 0.040 14 76517387 intron variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs12456774
rs12456774
1 1.000 0.040 18 22592612 intergenic variant G/A snv 0.17 0.010 1.000 1 2011 2011
dbSNP: rs13361189
rs13361189
13 0.752 0.240 5 150843825 upstream gene variant T/C snv 0.21 0.010 1.000 1 2016 2016
dbSNP: rs160441
rs160441
2 1.000 0.040 8 89644760 intron variant T/C snv 0.55 0.010 1.000 1 2019 2019
dbSNP: rs17175227
rs17175227
1 1.000 0.040 14 70035333 downstream gene variant G/A;C snv 2.1E-02 0.800 1.000 1 2014 2014
dbSNP: rs218916
rs218916
2 1.000 0.040 8 89688709 intron variant C/T snv 0.67 0.010 1.000 1 2019 2019
dbSNP: rs2202157
rs2202157
1 1.000 0.040 3 26501929 intergenic variant C/T snv 0.12 0.800 1.000 1 2014 2014
dbSNP: rs2737190
rs2737190
6 0.827 0.120 9 117701903 upstream gene variant G/A snv 0.52 0.010 1.000 1 2016 2016
dbSNP: rs35037722
rs35037722
2 0.925 0.040 17 78355453 upstream gene variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs39509
rs39509
1 1.000 0.040 8 89791937 downstream gene variant G/A snv 0.65 0.010 1.000 1 2019 2019
dbSNP: rs4842407
rs4842407
4 0.882 0.200 12 78807293 intron variant A/G snv 0.35 0.700 1.000 1 2017 2017
dbSNP: rs4859843
rs4859843
1 1.000 0.040 4 77439033 intron variant T/C;G snv 0.010 < 0.001 1 2017 2017
dbSNP: rs4859846
rs4859846
1 1.000 0.040 4 77439174 intron variant G/A snv 0.19 0.010 < 0.001 1 2017 2017
dbSNP: rs6610650
rs6610650
2 1.000 0.040 X 37777261 intron variant G/A snv 0.27 0.010 1.000 1 2015 2015
dbSNP: rs6676375
rs6676375
1 1.000 0.040 1 242711583 intergenic variant T/C snv 0.15 0.800 1.000 1 2014 2014
dbSNP: rs7194886
rs7194886
4 0.851 0.080 16 50691282 upstream gene variant C/T snv 0.38 0.010 1.000 1 2012 2012
dbSNP: rs8073782
rs8073782
2 0.925 0.040 17 27807685 intron variant C/T snv 0.27 0.010 1.000 1 2009 2009
dbSNP: rs8087945
rs8087945
1 1.000 0.040 18 22596123 intergenic variant A/G snv 0.61 0.010 1.000 1 2011 2011