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: 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: rs1341402
rs1341402
2 1.000 0.040 13 105463160 intron variant T/C snv 0.16 0.010 1.000 1 2010 2010
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: rs2709722
rs2709722
2 1.000 0.040 7 20828189 downstream gene variant C/A;T snv 0.010 1.000 1 2013 2013
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: 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
dbSNP: rs502434
rs502434
2 1.000 0.040 X 123403426 synonymous variant T/C snv 0.59 0.010 1.000 1 2018 2018
dbSNP: rs701492
rs701492
2 1.000 0.040 2 170845970 intron variant C/T snv 0.30 0.28 0.010 1.000 1 2017 2017
dbSNP: rs713729
rs713729
2 1.000 0.040 22 38059462 intron variant T/A snv 0.20 0.010 1.000 1 2007 2007
dbSNP: rs737864
rs737864
2 1.000 0.040 22 19942636 intron variant C/T snv 0.23 0.010 1.000 1 2007 2007
dbSNP: rs769404
rs769404
2 1.000 0.040 2 170822115 synonymous variant T/C snv 0.39 0.35 0.010 1.000 1 2017 2017
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: rs1421292
rs1421292
3 0.925 0.040 13 105545886 intergenic variant T/A snv 0.39 0.010 1.000 1 2009 2009
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: 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: rs2619539
rs2619539
3 0.925 0.040 6 15620624 intron variant C/A;G snv 0.010 1.000 1 2008 2008
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: rs4309482
rs4309482
3 0.925 0.040 18 55083238 intergenic variant A/G snv 0.39 0.010 1.000 1 2012 2012
dbSNP: rs7687423
rs7687423
3 0.925 0.080 4 163329645 intron variant A/G snv 0.53 0.010 1.000 1 2009 2009
dbSNP: rs7759855
rs7759855
3 0.925 0.040 6 28315086 downstream gene variant A/G snv 2.8E-02 0.010 1.000 1 2014 2014