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: rs2300525
rs2300525
1 1.000 0.120 14 81031049 intron variant T/C snv 0.24 0.710 1.000 2 2011 2019
dbSNP: rs231726
rs231726
7 0.790 0.200 2 203876143 downstream gene variant C/T snv 0.36 0.710 1.000 2 2011 2019
dbSNP: rs312691
rs312691
2 0.925 0.280 17 70330197 intron variant T/C snv 0.25 0.710 1.000 2 2012 2019
dbSNP: rs3212227
rs3212227
65 0.566 0.840 5 159315942 3 prime UTR variant T/G snv 0.26 0.020 1.000 2 2011 2016
dbSNP: rs3761548
rs3761548
42 0.620 0.680 X 49261784 intron variant G/A;T snv 0.020 1.000 2 2013 2019
dbSNP: rs3761549
rs3761549
18 0.724 0.480 X 49260888 intron variant G/A snv 9.6E-02 0.020 1.000 2 2014 2019
dbSNP: rs3761959
rs3761959
7 0.827 0.320 1 157699488 intron variant C/A;G;T snv 0.810 1.000 2 2011 2013
dbSNP: rs3783949
rs3783949
1 1.000 0.120 14 80982038 non coding transcript exon variant T/G snv 0.48 0.710 1.000 2 2011 2014
dbSNP: rs4903964
rs4903964
1 1.000 0.120 14 81002610 intron variant G/A;C snv 0.710 1.000 2 2011 2019
dbSNP: rs5742909
rs5742909
40 0.614 0.680 2 203867624 upstream gene variant C/T snv 6.7E-02 0.020 1.000 2 2016 2017
dbSNP: rs5912838
rs5912838
2 0.925 0.280 X 79241621 intergenic variant A/C snv 0.800 1.000 2 2013 2019
dbSNP: rs6457617
rs6457617
11 0.763 0.480 6 32696074 intergenic variant C/A;T snv 0.800 1.000 2 2011 2019
dbSNP: rs7528684
rs7528684
13 0.752 0.560 1 157701026 upstream gene variant A/G snv 0.57 0.020 1.000 2 2010 2013
dbSNP: rs7574865
rs7574865
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.020 1.000 2 2014 2018
dbSNP: rs907715
rs907715
11 0.752 0.520 4 122613898 intron variant C/T snv 0.35 0.020 1.000 2 2011 2018
dbSNP: rs10004195
rs10004195
8 0.790 0.320 4 38783103 upstream gene variant T/A snv 0.29 0.010 1.000 1 2015 2015
dbSNP: rs10145099
rs10145099
1 1.000 0.120 14 80990350 intron variant C/T snv 0.35 0.700 1.000 1 2011 2011
dbSNP: rs10181656
rs10181656
9 0.763 0.360 2 191105153 intron variant G/C snv 0.79 0.010 1.000 1 2014 2014
dbSNP: rs10197319
rs10197319
1 1.000 0.120 2 203898321 regulatory region variant G/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs1044043
rs1044043
1 1.000 0.120 6 32826204 3 prime UTR variant A/C snv 0.82 0.700 1.000 1 2011 2011
dbSNP: rs1053005
rs1053005
10 0.763 0.360 17 42313892 3 prime UTR variant T/C snv 0.25 0.010 1.000 1 2013 2013
dbSNP: rs1057035
rs1057035
12 0.763 0.440 14 95087805 3 prime UTR variant T/C snv 0.26 0.010 1.000 1 2016 2016
dbSNP: rs10738760
rs10738760
7 0.807 0.320 9 2691186 regulatory region variant A/G snv 0.56 0.010 1.000 1 2016 2016
dbSNP: rs10760130
rs10760130
2 0.925 0.200 9 120939712 intergenic variant G/A snv 0.45 0.010 1.000 1 2016 2016
dbSNP: rs10818488
rs10818488
8 0.776 0.360 9 120942809 regulatory region variant A/G snv 0.51 0.010 1.000 1 2016 2016