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: rs1813443
rs1813443
1 1.000 0.040 11 100140279 intron variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs1734907
rs1734907
4 0.925 0.080 7 100717894 upstream gene variant A/G snv 0.84 0.010 1.000 1 2019 2019
dbSNP: rs314313
rs314313
2 1.000 0.040 7 100825743 intron variant T/A;C;G snv 0.29 0.700 1.000 1 2015 2015
dbSNP: rs1277073914
rs1277073914
2 0.925 0.040 7 100992117 missense variant T/A snv 0.010 1.000 1 2006 2006
dbSNP: rs16910526
rs16910526
12 0.742 0.280 12 10118488 stop gained A/C;G snv 6.2E-02 0.010 1.000 1 2009 2009
dbSNP: rs503734
rs503734
2 1.000 0.040 3 101304904 intron variant A/G snv 0.40 0.700 1.000 1 2017 2017
dbSNP: rs13107612
rs13107612
5 0.827 0.120 4 101818823 intron variant C/T snv 0.31 0.700 1.000 1 2016 2016
dbSNP: rs13126505
rs13126505
3 1.000 0.040 4 101944147 intron variant G/A snv 4.1E-02 0.800 1.000 2 2012 2017
dbSNP: rs34592089
rs34592089
2 1.000 0.040 4 102005766 intron variant G/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs4851529
rs4851529
5 0.827 0.120 2 102030838 downstream gene variant G/A snv 0.44 0.700 1.000 1 2016 2016
dbSNP: rs10185424
rs10185424
2 0.925 0.040 2 102046427 intron variant T/G snv 0.62 0.700 1.000 1 2015 2015
dbSNP: rs871656
rs871656
5 0.827 0.120 2 102154822 intron variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs13107325
rs13107325
34 0.776 0.520 4 102267552 missense variant C/A;T snv 4.0E-06; 4.5E-02 0.030 1.000 3 2016 2019
dbSNP: rs13001325
rs13001325
3 1.000 0.040 2 102322576 intron variant C/T snv 0.30 0.700 1.000 1 2017 2017
dbSNP: rs13015714
rs13015714
3 0.882 0.200 2 102355405 intron variant G/T snv 0.77 0.010 1.000 1 2013 2013
dbSNP: rs12987977
rs12987977
5 0.827 0.120 2 102358876 intron variant T/G snv 0.31 0.700 1.000 1 2016 2016
dbSNP: rs2058660
rs2058660
4 0.882 0.280 2 102437989 intron variant G/A snv 0.78 0.810 1.000 2 2010 2015
dbSNP: rs6708413
rs6708413
2 1.000 0.040 2 102446909 intron variant G/A snv 0.78 0.700 1.000 1 2015 2015
dbSNP: rs917997
rs917997
20 0.701 0.480 2 102454108 downstream gene variant T/A;C snv 0.010 1.000 1 2008 2008
dbSNP: rs2075184
rs2075184
14 0.724 0.240 2 102464132 intergenic variant T/C snv 0.78 0.700 1.000 1 2015 2015
dbSNP: rs28362491
rs28362491
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.010 1.000 1 2014 2014
dbSNP: rs3774937
rs3774937
9 0.776 0.280 4 102513096 intron variant T/C snv 0.26 0.700 1.000 1 2016 2016
dbSNP: rs230534
rs230534
3 0.882 0.120 4 102527884 intron variant T/C snv 0.73 0.010 1.000 1 2015 2015
dbSNP: rs7705924
rs7705924
1 1.000 0.040 5 102611094 intron variant A/G snv 5.1E-02 0.800 1.000 1 2012 2012
dbSNP: rs1799969
rs1799969
38 0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02 0.010 < 0.001 1 2015 2015