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: rs12144049
rs12144049
1 1.000 0.120 1 152468434 intergenic variant C/G;T snv 0.700 1.000 2 2015 2015
dbSNP: rs12153855
rs12153855
11 0.776 0.320 6 32107027 intron variant T/C snv 0.11 0.800 1.000 1 2013 2013
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs12188917
rs12188917
1 1.000 0.120 5 132655393 intron variant T/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs121909626
rs121909626
4 0.882 0.120 1 152307225 stop gained G/C;T snv 2.0E-05 0.020 1.000 2 2007 2008
dbSNP: rs12198173
rs12198173
9 0.827 0.240 6 32059031 intron variant G/A snv 0.10 0.700 1.000 1 2013 2013
dbSNP: rs12211410
rs12211410
5 0.925 0.120 6 32081646 missense variant C/G;T snv 5.6E-05; 7.7E-02; 3.7E-05 0.700 1.000 1 2013 2013
dbSNP: rs1221479287
rs1221479287
2 0.925 0.120 19 54783499 missense variant G/A snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1239828657
rs1239828657
2 0.925 0.120 9 6256028 missense variant T/G snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs12568784
rs12568784
2 0.925 0.120 1 152350656 stop gained G/A;T snv 0.24 0.21 0.010 < 0.001 1 2014 2014
dbSNP: rs12634229
rs12634229
3 0.882 0.120 3 112657461 intergenic variant T/C snv 0.15 0.810 1.000 2 2012 2016
dbSNP: rs1295685
rs1295685
7 0.790 0.160 5 132660753 3 prime UTR variant A/G snv 0.81 0.700 1.000 1 2013 2013
dbSNP: rs1295686
rs1295686
7 0.882 0.160 5 132660151 intron variant T/A;C snv 0.68 0.800 1.000 2 2013 2015
dbSNP: rs13015714
rs13015714
3 0.882 0.200 2 102355405 intron variant G/T snv 0.77 0.800 1.000 2 2012 2015
dbSNP: rs13132933
rs13132933
2 0.925 0.200 4 122089432 upstream gene variant T/C snv 0.22 0.700 1.000 1 2015 2015
dbSNP: rs13139310
rs13139310
3 0.925 0.120 4 184435757 intron variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs13199524
rs13199524
9 0.807 0.240 6 32098988 intron variant C/T snv 8.4E-02 0.700 1.000 1 2013 2013
dbSNP: rs1335908042
rs1335908042
2 0.925 0.120 2 112918756 missense variant T/G snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs13360927
rs13360927
3 0.882 0.160 5 110700055 intron variant A/G snv 9.3E-02 0.710 1.000 2 2011 2012
dbSNP: rs13361382
rs13361382
3 0.882 0.160 5 110713253 intron variant G/A snv 9.3E-02 0.710 1.000 2 2011 2012
dbSNP: rs1343795
rs1343795
5 0.882 0.120 17 49334880 intron variant C/A snv 0.78 0.010 1.000 1 2018 2018
dbSNP: rs1384974
rs1384974
2 0.925 0.120 3 177009491 downstream gene variant T/C snv 9.6E-02 0.700 1.000 1 2015 2015
dbSNP: rs138726443
rs138726443
7 0.790 0.200 1 152307547 stop gained G/A;C;T snv 2.8E-03; 4.0E-06; 1.6E-05 0.030 1.000 3 2010 2020
dbSNP: rs1422985
rs1422985
2 0.925 0.120 5 148114596 intron variant A/C snv 3.2E-02 0.010 1.000 1 2010 2010
dbSNP: rs1443712053
rs1443712053
2 0.925 0.120 1 152310672 stop gained G/C snv 4.0E-06 0.010 1.000 1 2015 2015