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: rs5010528
rs5010528
3 0.827 0.240 6 31273255 intron variant A/G snv 0.15 0.720 1.000 2 2017 2018
dbSNP: rs6500265
rs6500265
3 0.882 0.240 16 49912759 intergenic variant C/G;T snv 0.27 0.710 1.000 1 2017 2018
dbSNP: rs1045485
rs1045485
34 0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 0.020 1.000 2 2012 2017
dbSNP: rs28399499
rs28399499
6 0.827 0.280 19 41012316 missense variant T/C snv 5.1E-03 2.2E-02 0.020 1.000 2 2013 2014
dbSNP: rs10181739
rs10181739
1 1.000 0.160 2 85694429 stop gained G/A;T snv 6.4E-03 2.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs1051740
rs1051740
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2014 2014
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2012 2012
dbSNP: rs1801275
rs1801275
57 0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36 0.010 1.000 1 2008 2008
dbSNP: rs2779249
rs2779249
7 0.851 0.200 17 27801555 intron variant C/A snv 0.33 0.010 1.000 1 2012 2012
dbSNP: rs3745274
rs3745274
30 0.672 0.480 19 41006936 missense variant G/A;T snv 4.0E-06; 0.27 0.010 1.000 1 2013 2013
dbSNP: rs3834129
rs3834129
38 0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 0.010 1.000 1 2017 2017
dbSNP: rs384129
rs384129
2 0.925 0.160 11 22670928 intron variant T/A snv 0.010 1.000 1 2012 2012
dbSNP: rs41544623
rs41544623
3 0.882 0.280 6 31411083 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs76228616
rs76228616
2 0.925 0.240 6 111601300 5 prime UTR variant G/C snv 5.8E-02 0.010 1.000 1 2015 2015
dbSNP: rs77375493
rs77375493
181 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2017 2017
dbSNP: rs79908535
rs79908535
3 0.882 0.280 5 132679856 missense variant G/A snv 6.8E-05 2.8E-05 0.010 1.000 1 2008 2008
dbSNP: rs9933632
rs9933632
3 0.882 0.240 16 49906847 intergenic variant G/T snv 0.31 0.010 1.000 1 2018 2018