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: rs12155594
rs12155594
2 1.000 0.040 8 31749079 intron variant C/T snv 7.8E-02 0.020 1.000 2 2013 2018
dbSNP: rs4281084
rs4281084
2 1.000 0.040 8 31637858 upstream gene variant G/A snv 0.22 0.020 1.000 2 2013 2018
dbSNP: rs10494561
rs10494561
3 1.000 0.040 1 183277955 intron variant C/T snv 9.4E-02 0.010 1.000 1 2017 2017
dbSNP: rs10503929
rs10503929
3 0.925 0.040 8 32756465 missense variant T/C snv 0.13 0.13 0.010 1.000 1 2017 2017
dbSNP: rs10994359
rs10994359
7 0.827 0.040 10 60462349 intron variant T/C snv 8.0E-02 0.010 1.000 1 2014 2014
dbSNP: rs1126442
rs1126442
2 1.000 0.040 9 137156924 missense variant G/A snv 0.26 0.24 0.010 1.000 1 2013 2013
dbSNP: rs12966547
rs12966547
7 0.827 0.040 18 55084786 intergenic variant G/A snv 0.39 0.010 1.000 1 2012 2012
dbSNP: rs1341402
rs1341402
2 1.000 0.040 13 105463160 intron variant T/C snv 0.16 0.010 1.000 1 2010 2010
dbSNP: rs1421292
rs1421292
3 0.925 0.040 13 105545886 intergenic variant T/A snv 0.39 0.010 1.000 1 2009 2009
dbSNP: rs165940
rs165940
4 0.925 0.040 5 59383658 intron variant A/T snv 0.38 0.010 1.000 1 2019 2019
dbSNP: rs17512836
rs17512836
3 0.925 0.040 18 55527730 intron variant T/C snv 2.2E-02 0.010 1.000 1 2012 2012
dbSNP: rs1893490
rs1893490
2 1.000 0.040 18 50669431 non coding transcript exon variant T/C snv 0.48 0.010 1.000 1 2015 2015
dbSNP: rs2007044
rs2007044
6 0.882 0.040 12 2235794 intron variant A/G snv 0.50 0.010 1.000 1 2017 2017
dbSNP: rs2076369
rs2076369
3 0.925 0.040 22 38067645 non coding transcript exon variant T/A;G snv 0.010 1.000 1 2007 2007
dbSNP: rs2239547
rs2239547
6 0.882 0.040 3 52821213 intron variant T/C snv 0.27 0.010 1.000 1 2014 2014
dbSNP: rs2514218
rs2514218
4 0.925 0.040 11 113522272 regulatory region variant C/T snv 0.26 0.010 1.000 1 2015 2015
dbSNP: rs2619538
rs2619538
4 0.882 0.040 6 15664978 upstream gene variant A/T snv 0.54 0.010 1.000 1 2008 2008
dbSNP: rs2619539
rs2619539
3 0.925 0.040 6 15620624 intron variant C/A;G snv 0.010 1.000 1 2008 2008
dbSNP: rs2709722
rs2709722
2 1.000 0.040 7 20828189 downstream gene variant C/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs2958182
rs2958182
5 0.882 0.040 18 55481790 intron variant A/T snv 0.72 0.010 1.000 1 2012 2012
dbSNP: rs3752088
rs3752088
2 1.000 0.040 18 50714891 intron variant C/A snv 0.51 0.010 1.000 1 2015 2015
dbSNP: rs3761554
rs3761554
2 1.000 0.040 X 123183391 upstream gene variant T/C snv 0.21 0.010 < 0.001 1 2018 2018
dbSNP: rs3788533
rs3788533
3 0.925 0.040 22 38127239 non coding transcript exon variant C/G snv 0.47 0.010 1.000 1 2013 2013
dbSNP: rs3794899
rs3794899
2 1.000 0.040 18 50719733 intron variant C/T snv 0.81 0.010 1.000 1 2015 2015
dbSNP: rs3892158
rs3892158
2 1.000 0.040 18 50674143 intron variant C/T snv 0.69 0.010 1.000 1 2015 2015