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: rs3761548
rs3761548
42 0.620 0.680 X 49261784 intron variant G/A;T snv 0.020 1.000 2 2013 2013
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2012 2020
dbSNP: rs638893
rs638893
4 0.882 0.080 11 118827828 intergenic variant G/A snv 0.79 0.020 1.000 2 2013 2017
dbSNP: rs9468925
rs9468925
5 0.851 0.040 6 31291060 intron variant G/A snv 0.44 0.020 1.000 2 2011 2012
dbSNP: rs1001179
rs1001179
CAT
33 0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16 0.010 1.000 1 2017 2017
dbSNP: rs10249788
rs10249788
6 0.827 0.160 7 17298523 intron variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs10431924
rs10431924
3 0.882 0.120 16 68805399 intron variant T/C snv 0.45 0.010 1.000 1 2015 2015
dbSNP: rs1043210477
rs1043210477
19 0.701 0.520 3 49358250 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs10503019
rs10503019
2 0.925 0.040 18 57787145 intron variant G/A snv 0.17 0.010 1.000 1 2015 2015
dbSNP: rs10876864
rs10876864
5 0.882 0.120 12 56007301 upstream gene variant G/A snv 0.50 0.010 1.000 1 2013 2013
dbSNP: rs1141718
rs1141718
15 0.724 0.280 6 159688224 missense variant A/G snv 0.010 1.000 1 2013 2013
dbSNP: rs11575993
rs11575993
2 0.925 0.040 6 159688219 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs11940117
rs11940117
2 0.925 0.040 4 10725083 intergenic variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs12301088
rs12301088
3 0.882 0.080 12 68196168 intron variant C/T snv 0.37 0.010 1.000 1 2016 2016
dbSNP: rs12321603
rs12321603
3 0.882 0.080 12 68293070 intron variant C/T snv 4.4E-02 0.010 1.000 1 2016 2016
dbSNP: rs1298695421
rs1298695421
2 0.925 0.040 16 72060682 missense variant C/T snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs13208776
rs13208776
3 0.882 0.040 6 168540944 intron variant G/A;C snv 0.010 < 0.001 1 2011 2011
dbSNP: rs1408944
rs1408944
2 0.925 0.040 10 79248726 intron variant A/G snv 0.25 0.010 1.000 1 2014 2014
dbSNP: rs1417210
rs1417210
2 0.925 0.040 10 71376162 intron variant G/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs1464510
rs1464510
LPP
9 0.807 0.280 3 188394766 intron variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs158676
rs158676
2 0.925 0.040 20 33386589 intron variant G/A snv 0.68 0.010 1.000 1 2013 2013
dbSNP: rs16147
rs16147
18 0.695 0.400 7 24283791 upstream gene variant T/C snv 0.48 0.010 1.000 1 2014 2014
dbSNP: rs16944
rs16944
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 1.000 1 2014 2014
dbSNP: rs1861494
rs1861494
15 0.716 0.400 12 68157629 intron variant C/T snv 0.75 0.010 1.000 1 2017 2017
dbSNP: rs2010963
rs2010963
82 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.010 1.000 1 2019 2019