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: rs3093457
rs3093457
1 1.000 0.120 Y 57184462 intron variant T/G snv 0.010 1.000 1 2009 2009
dbSNP: rs3027898
rs3027898
11 0.752 0.360 X 154010439 downstream gene variant C/A snv 0.040 0.500 4 2010 2018
dbSNP: rs1059703
rs1059703
6 0.851 0.280 X 154013378 missense variant G/A snv 0.67 0.020 0.500 2 2010 2017
dbSNP: rs13397
rs13397
2 0.925 0.200 X 153982797 synonymous variant G/A snv 0.27 0.15 0.810 1.000 2 2012 2017
dbSNP: rs1059702
rs1059702
7 0.807 0.280 X 154018741 missense variant A/G snv 0.72 0.010 1.000 1 2017 2017
dbSNP: rs141561256
rs141561256
1 1.000 0.120 X 51367945 intron variant G/A snv 4.6E-03 0.010 1.000 1 2018 2018
dbSNP: rs179008
rs179008
14 0.763 0.360 X 12885540 missense variant A/C;T snv 0.18 0.18 0.010 1.000 1 2017 2017
dbSNP: rs2232365
rs2232365
16 0.716 0.480 X 49259429 intron variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs371045754
rs371045754
F9
4 0.882 0.200 X 139530726 upstream gene variant A/C snv 5.5E-06 1.9E-05 0.010 1.000 1 2015 2015
dbSNP: rs3853839
rs3853839
10 0.752 0.480 X 12889539 3 prime UTR variant C/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs5917925
rs5917925
1 1.000 0.120 X 40046169 downstream gene variant G/T snv 0.42 0.700 1.000 1 2009 2009
dbSNP: rs5987194
rs5987194
1 1.000 0.120 X 154036016 intron variant C/G snv 0.800 1.000 1 2014 2014
dbSNP: rs6520278
rs6520278
1 1.000 0.120 X 47588525 intron variant C/T snv 0.35 0.010 1.000 1 2009 2009
dbSNP: rs751650405
rs751650405
NHS
1 1.000 0.120 X 17719360 missense variant C/G;T snv 3.5E-05 2.9E-05 0.010 1.000 1 2005 2005
dbSNP: rs909685
rs909685
2 0.925 0.200 22 39351666 intron variant T/A snv 0.37 0.810 1.000 4 2014 2019
dbSNP: rs11089637
rs11089637
2 1.000 0.120 22 21624807 downstream gene variant T/C snv 0.28 0.800 1.000 3 2014 2019
dbSNP: rs3218253
rs3218253
2 0.925 0.160 22 37148770 intron variant G/A snv 0.22 0.720 1.000 3 2008 2014
dbSNP: rs743777
rs743777
7 0.827 0.200 22 37155567 intron variant A/G snv 0.36 0.820 1.000 3 2007 2014
dbSNP: rs3218251
rs3218251
1 1.000 0.120 22 37149465 intron variant T/A;C snv 0.800 1.000 2 2012 2015
dbSNP: rs755622
rs755622
44 0.611 0.720 22 23894205 intron variant G/C snv 0.26 0.020 1.000 2 2012 2020
dbSNP: rs1005133
rs1005133
1 1.000 0.120 22 19750832 intergenic variant C/T snv 0.20 0.700 1.000 1 2019 2019
dbSNP: rs1043099
rs1043099
1 1.000 0.120 22 30285268 3 prime UTR variant C/A;G;T snv 0.800 1.000 1 2014 2014
dbSNP: rs12537
rs12537
5 0.827 0.280 22 30027471 3 prime UTR variant C/T snv 0.40 0.010 1.000 1 2019 2019
dbSNP: rs13054355
rs13054355
1 1.000 0.120 22 21642781 intron variant G/A snv 0.12 0.700 1.000 1 2019 2019
dbSNP: rs1456532185
rs1456532185
1 1.000 0.120 22 39968182 missense variant C/A snv 4.1E-06 0.010 1.000 1 2011 2011