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: rs6465084
rs6465084
5 0.851 0.040 7 86774159 intron variant A/G snv 0.26 0.010 1.000 1 2017 2017
dbSNP: rs701428
rs701428
4 1.000 0.040 22 20241019 downstream gene variant A/G snv 0.56 0.010 1.000 1 2017 2017
dbSNP: rs737865
rs737865
11 0.763 0.240 22 19942598 intron variant A/G snv 0.23 0.010 1.000 1 2007 2007
dbSNP: rs7687423
rs7687423
3 0.925 0.080 4 163329645 intron variant A/G snv 0.53 0.010 1.000 1 2009 2009
dbSNP: rs7759855
rs7759855
3 0.925 0.040 6 28315086 downstream gene variant A/G snv 2.8E-02 0.010 1.000 1 2014 2014
dbSNP: rs751229
rs751229
2 1.000 0.040 1 231632793 intron variant A/G;T snv 0.010 1.000 1 2007 2007
dbSNP: rs165940
rs165940
4 0.925 0.040 5 59383658 intron variant A/T snv 0.38 0.010 1.000 1 2019 2019
dbSNP: rs17645023
rs17645023
3 1.000 0.040 17 66920916 intergenic variant A/T snv 0.22 0.800 1.000 1 2011 2011
dbSNP: rs2619538
rs2619538
4 0.882 0.040 6 15664978 upstream gene variant A/T snv 0.54 0.010 1.000 1 2008 2008
dbSNP: rs2958182
rs2958182
5 0.882 0.040 18 55481790 intron variant A/T snv 0.72 0.010 1.000 1 2012 2012
dbSNP: rs1076560
rs1076560
11 0.776 0.120 11 113412966 intron variant C/A snv 0.16 0.020 0.500 2 2015 2019
dbSNP: rs1130214
rs1130214
12 0.742 0.280 14 104793397 5 prime UTR variant C/A snv 0.31 0.010 1.000 1 2020 2020
dbSNP: rs11789407
rs11789407
2 9 118597268 intergenic variant C/A snv 0.44 0.700 1.000 1 2010 2010
dbSNP: rs3752088
rs3752088
2 1.000 0.040 18 50714891 intron variant C/A snv 0.51 0.010 1.000 1 2015 2015
dbSNP: rs3800373
rs3800373
22 0.752 0.200 6 35574699 3 prime UTR variant C/A snv 0.68 0.010 1.000 1 2009 2009
dbSNP: rs6913660
rs6913660
2 1.000 0.040 6 27123646 upstream gene variant C/A snv 0.14 0.700 1.000 1 2014 2014
dbSNP: rs781720548
rs781720548
5 0.882 0.040 20 35652946 stop gained C/A snv 0.010 1.000 1 2017 2017
dbSNP: rs2619539
rs2619539
3 0.925 0.040 6 15620624 intron variant C/A;G snv 0.010 1.000 1 2008 2008
dbSNP: rs518147
rs518147
7 0.807 0.200 X 114584109 5 prime UTR variant C/A;G snv 0.010 1.000 1 2019 2019
dbSNP: rs6994992
rs6994992
13 0.790 0.120 8 31638065 upstream gene variant C/A;T snv 0.020 1.000 2 2008 2009
dbSNP: rs2498804
rs2498804
8 0.827 0.160 14 104766758 intron variant C/A;T snv 0.40 0.33 0.010 1.000 1 2012 2012
dbSNP: rs2709722
rs2709722
2 1.000 0.040 7 20828189 downstream gene variant C/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs778293
rs778293
7 0.807 0.120 13 105516850 intergenic variant C/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs778294
rs778294
5 0.851 0.040 13 105489886 synonymous variant C/A;T snv 0.27; 4.0E-06 0.26 0.010 1.000 1 2010 2010
dbSNP: rs893924483
rs893924483
23 0.716 0.280 11 27658285 missense variant C/A;T snv 4.0E-06 1.4E-05 0.010 1.000 1 2017 2017