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: rs1906953
rs1906953
4 0.882 0.040 6 34068669 intron variant C/T snv 0.25 0.820 1.000 3 2013 2016
dbSNP: rs10208273
rs10208273
3 0.882 0.040 2 6383862 intergenic variant A/G snv 0.30 0.710 1.000 2 2013 2014
dbSNP: rs1057519736
rs1057519736
13 0.752 0.160 15 90088605 missense variant C/G snv 0.020 1.000 2 2013 2014
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 0.500 2 2007 2009
dbSNP: rs1690916
rs1690916
4 0.882 0.040 12 68841626 3 prime UTR variant G/A snv 0.35 0.020 0.500 2 2014 2016
dbSNP: rs1800541
rs1800541
5 0.851 0.120 6 12288986 upstream gene variant T/G snv 0.24 0.020 1.000 2 2013 2014
dbSNP: rs2279744
rs2279744
48 0.605 0.640 12 68808800 intron variant T/G snv 0.31 0.020 < 0.001 2 2014 2016
dbSNP: rs2298881
rs2298881
25 0.653 0.400 19 45423658 intron variant C/A;T snv 0.020 1.000 2 2015 2015
dbSNP: rs4150441
rs4150441
5 0.882 0.040 2 127283339 intron variant T/C snv 0.37 0.020 1.000 2 2016 2017
dbSNP: rs454006
rs454006
3 0.882 0.040 19 53886867 intron variant T/C snv 0.36 0.020 1.000 2 2014 2015
dbSNP: rs7034162
rs7034162
4 0.882 0.040 9 14190288 intron variant A/T snv 0.81 0.720 1.000 2 2015 2019
dbSNP: rs7591996
rs7591996
3 0.882 0.040 2 6321289 intron variant A/C snv 0.57 0.810 1.000 2 2013 2014
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 0.500 2 2007 2009
dbSNP: rs1005464
rs1005464
5 0.882 0.040 20 6775501 intron variant G/A snv 0.19 0.010 1.000 1 2015 2015
dbSNP: rs1052667
rs1052667
6 0.882 0.040 19 47004177 3 prime UTR variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1056629
rs1056629
6 0.827 0.120 16 82148499 3 prime UTR variant T/C snv 0.14 0.010 1.000 1 2016 2016
dbSNP: rs1057519902
rs1057519902
16 0.742 0.160 1 226064451 missense variant G/C snv 0.010 1.000 1 2017 2017
dbSNP: rs1060501205
rs1060501205
5 0.827 0.120 17 7673749 missense variant TG/GT mnv 0.010 1.000 1 2008 2008
dbSNP: rs1061970
rs1061970
3 0.882 0.040 17 50184491 3 prime UTR variant A/G snv 0.13 0.010 1.000 1 2014 2014
dbSNP: rs11177386
rs11177386
3 0.882 0.040 12 68820362 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs12146774
rs12146774
1 1.000 0.040 12 119235698 intron variant C/T snv 0.15 0.700 1.000 1 2018 2018
dbSNP: rs12190287
rs12190287
19 0.708 0.280 6 133893387 3 prime UTR variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs121913282
rs121913282
4 0.882 0.040 3 179221072 missense variant A/C snv 0.010 1.000 1 2012 2012
dbSNP: rs121913499
rs121913499
51 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1223868338
rs1223868338
3 0.882 0.040 10 88990884 missense variant G/C snv 7.0E-06 0.010 1.000 1 2007 2007