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: rs2004640
rs2004640
26 0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 0.020 1.000 2 2014 2018
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2005 2010
dbSNP: rs7574865
rs7574865
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.020 0.500 2 2013 2015
dbSNP: rs1003706636
rs1003706636
1 1.000 0.120 1 247424639 missense variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs1004819
rs1004819
9 0.776 0.360 1 67204530 intron variant G/A snv 0.30 0.010 1.000 1 2016 2016
dbSNP: rs10128264
rs10128264
1 1.000 0.120 10 79200216 intron variant T/C snv 0.64 0.700 1.000 1 2014 2014
dbSNP: rs1018981
rs1018981
1 1.000 0.120 7 41335525 intergenic variant C/A snv 3.2E-02 0.010 1.000 1 2019 2019
dbSNP: rs10499194
rs10499194
10 0.752 0.400 6 137681500 intron variant C/T snv 0.24 0.010 1.000 1 2009 2009
dbSNP: rs10761744
rs10761744
1 1.000 0.120 10 63341266 intron variant C/G;T snv 0.87 0.700 1.000 1 2012 2012
dbSNP: rs10761745
rs10761745
3 0.882 0.240 10 63341311 intron variant G/C snv 0.87 0.700 1.000 1 2012 2012
dbSNP: rs10822050
rs10822050
14 0.724 0.240 10 62679011 downstream gene variant T/C snv 0.33 0.700 1.000 1 2015 2015
dbSNP: rs10919563
rs10919563
3 0.925 0.120 1 198731313 intron variant G/A snv 0.21 0.010 1.000 1 2017 2017
dbSNP: rs10931481
rs10931481
5 0.827 0.240 2 191090126 intron variant G/A snv 0.66 0.010 1.000 1 2019 2019
dbSNP: rs10954213
rs10954213
11 0.752 0.200 7 128949373 3 prime UTR variant G/A snv 0.58 0.010 < 0.001 1 2018 2018
dbSNP: rs10956445
rs10956445
1 1.000 0.120 8 128775730 intron variant T/C snv 0.20 0.700 1.000 1 2014 2014
dbSNP: rs10988542
rs10988542
14 0.724 0.240 9 129894985 intron variant G/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs11145763
rs11145763
14 0.724 0.240 9 136369144 intron variant A/C;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs11225055
rs11225055
1 1.000 0.120 11 101900702 intron variant T/A;C snv 0.700 1.000 1 2014 2014
dbSNP: rs114846446
rs114846446
14 0.724 0.240 2 2944140 intron variant G/A snv 9.5E-03 0.700 1.000 1 2015 2015
dbSNP: rs11580078
rs11580078
14 0.724 0.240 1 67203951 intron variant C/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs117372389
rs117372389
14 0.724 0.240 16 50634166 3 prime UTR variant G/T snv 1.1E-02 0.700 1.000 1 2015 2015
dbSNP: rs11741255
rs11741255
14 0.724 0.240 5 132475490 intron variant G/A snv 0.29 0.700 1.000 1 2015 2015
dbSNP: rs11817689
rs11817689
1 1.000 0.120 10 63164457 downstream gene variant T/C snv 0.13 0.700 1.000 1 2012 2012
dbSNP: rs11839053
rs11839053
14 0.724 0.240 13 106410694 intergenic variant T/C snv 7.0E-02 0.700 1.000 1 2015 2015
dbSNP: rs11893432
rs11893432
5 0.827 0.120 2 191057148 intron variant C/G snv 0.21 0.010 1.000 1 2019 2019