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: rs121913499
rs121913499
51 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.010 1.000 1 2010 2010
dbSNP: rs121913529
rs121913529
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs767808984
rs767808984
9 0.851 0.160 14 36520098 missense variant C/G;T snv 1.3E-05 0.010 1.000 1 2010 2010
dbSNP: rs770374782
rs770374782
6 0.851 0.160 17 7673752 missense variant G/A;C snv 1.2E-05 4.2E-05 0.010 1.000 1 2010 2010
dbSNP: rs121913227
rs121913227
31 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.010 1.000 1 2011 2011
dbSNP: rs139883133
rs139883133
2 0.925 0.120 3 8548583 stop gained G/A snv 1.9E-04 6.3E-05 0.010 1.000 1 2012 2012
dbSNP: rs1430452530
rs1430452530
5 0.851 0.160 14 61721518 missense variant A/G snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs762846821
rs762846821
57 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs762959475
rs762959475
1 1.000 0.080 3 146124229 missense variant T/C snv 4.0E-06 1.4E-05 0.010 1.000 1 2013 2013
dbSNP: rs754533102
rs754533102
2 1.000 0.080 10 100299692 missense variant C/T snv 6.0E-05 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.050 1.000 5 2006 2015
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.050 1.000 5 2006 2015
dbSNP: rs1057519847
rs1057519847
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.020 1.000 2 2014 2016
dbSNP: rs1057519848
rs1057519848
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.020 1.000 2 2014 2016
dbSNP: rs121434568
rs121434568
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.020 1.000 2 2014 2016
dbSNP: rs121909222
rs121909222
13 0.742 0.240 10 87933127 missense variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs1989839
rs1989839
8 0.790 0.160 3 50341515 intron variant A/G snv 0.22 0.20 0.010 1.000 1 2016 2016
dbSNP: rs201701502
rs201701502
5 0.851 0.080 1 162775837 missense variant C/G;T snv 1.5E-04 2.1E-05 0.010 1.000 1 2017 2017
dbSNP: rs3217992
rs3217992
22 0.683 0.480 9 22003224 3 prime UTR variant C/T snv 0.32 0.010 1.000 1 2019 2019
dbSNP: rs121434569
rs121434569
70 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.010 1.000 1 2020 2020