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: rs8099917
rs8099917
60 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 0.100 0.965 113 2010 2019
dbSNP: rs12980275
rs12980275
23 0.701 0.360 19 39241143 upstream gene variant A/G snv 0.36 0.100 1.000 18 2011 2019
dbSNP: rs10853728
rs10853728
5 0.851 0.160 19 39254506 downstream gene variant C/A;G;T snv 0.020 0.500 2 2011 2012
dbSNP: rs2856718
rs2856718
8 0.790 0.360 6 32702478 downstream gene variant C/T snv 0.34 0.020 1.000 2 2015 2016
dbSNP: rs7248668
rs7248668
3 0.925 0.080 19 39253181 upstream gene variant G/A snv 0.16 0.020 1.000 2 2013 2013
dbSNP: rs9275572
rs9275572
15 0.724 0.360 6 32711222 upstream gene variant A/G;T snv 0.020 1.000 2 2013 2016
dbSNP: rs111511318
rs111511318
1 1.000 0.080 5 156998817 intergenic variant C/A snv 2.9E-02 0.010 1.000 1 2014 2014
dbSNP: rs116399066
rs116399066
1 1.000 0.080 1 143723149 upstream gene variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1439490
rs1439490
3 0.882 0.120 22 21351147 upstream gene variant T/C snv 0.010 1.000 1 2018 2018
dbSNP: rs1979860
rs1979860
1 1.000 0.080 5 174586529 regulatory region variant C/T snv 1.8E-02 0.010 1.000 1 2013 2013
dbSNP: rs2111485
rs2111485
17 0.724 0.280 2 162254026 regulatory region variant A/G snv 0.46 0.010 < 0.001 1 2019 2019
dbSNP: rs2492965
rs2492965
1 1.000 0.080 6 72445473 intergenic variant T/C snv 0.90 0.700 1.000 1 2019 2019
dbSNP: rs2647006
rs2647006
1 1.000 0.080 6 32692805 intergenic variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs2647051
rs2647051
1 1.000 0.080 6 32703120 downstream gene variant T/C snv 0.64 0.700 1.000 1 2019 2019
dbSNP: rs2856723
rs2856723
2 0.925 0.120 6 32699985 intergenic variant A/G snv 0.63 0.700 1.000 1 2018 2018
dbSNP: rs2978048
rs2978048
2 1.000 0.080 8 133603893 intergenic variant T/C;G snv 5.2E-02 0.700 1.000 1 2014 2014
dbSNP: rs3135363
rs3135363
8 0.776 0.360 6 32421871 intergenic variant A/G snv 0.24 0.010 1.000 1 2013 2013
dbSNP: rs4273729
rs4273729
5 0.851 0.240 6 32710820 upstream gene variant C/A;G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs59888390
rs59888390
1 1.000 0.080 8 134989069 regulatory region variant A/G snv 0.25 0.700 1.000 1 2019 2019
dbSNP: rs6013897
rs6013897
7 0.790 0.200 20 54125940 regulatory region variant T/A snv 0.23 0.010 1.000 1 2019 2019
dbSNP: rs7262634
rs7262634
2 1.000 0.080 20 47205635 downstream gene variant T/C snv 8.6E-02 0.700 1.000 1 2014 2014
dbSNP: rs7332270
rs7332270
1 1.000 0.080 13 34857816 intergenic variant A/T snv 0.31 0.700 1.000 1 2019 2019
dbSNP: rs75707332
rs75707332
1 1.000 0.080 12 22022003 intergenic variant G/A snv 1.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs76755915
rs76755915
1 1.000 0.080 4 97038456 intergenic variant G/C snv 1.7E-02 0.700 1.000 1 2019 2019
dbSNP: rs76810409
rs76810409
1 1.000 0.080 7 109456395 TF binding site variant C/T snv 2.5E-02 0.700 1.000 1 2019 2019