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: rs28665122
rs28665122
7 0.807 0.240 15 101277522 upstream gene variant C/T snv 0.24 0.010 1.000 1 2011 2011
dbSNP: rs3917265
rs3917265
2 1.000 0.120 2 102162001 intron variant T/C snv 0.50 0.700 1.000 1 2015 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: rs6419573
rs6419573
1 1.000 0.120 2 102410643 upstream gene variant T/C snv 0.78 0.700 1.000 1 2015 2015
dbSNP: rs73510898
rs73510898
2 0.925 0.120 19 10305768 intron variant G/A;C;T snv 0.700 1.000 1 2015 2015
dbSNP: rs10067777
rs10067777
1 1.000 0.120 5 110490595 intron variant A/G snv 7.4E-02 0.700 1.000 1 2011 2011
dbSNP: rs7701890
rs7701890
1 1.000 0.120 5 110523120 intron variant A/G snv 0.15 0.700 1.000 1 2011 2011
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: rs1837253
rs1837253
10 0.790 0.240 5 111066174 upstream gene variant T/C snv 0.72 0.010 1.000 1 2017 2017
dbSNP: rs1898671
rs1898671
5 0.851 0.160 5 111072304 intron variant C/T snv 0.25 0.010 1.000 1 2019 2019
dbSNP: rs2289278
rs2289278
5 0.827 0.200 5 111073450 5 prime UTR variant C/G snv 8.7E-02 0.010 1.000 1 2016 2016
dbSNP: rs2271404
rs2271404
1 1.000 0.120 2 111246290 non coding transcript exon variant T/C snv 0.12 0.800 1.000 1 2012 2012
dbSNP: rs2041733
rs2041733
1 1.000 0.120 16 11135732 intron variant T/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs5744292
rs5744292
4 0.851 0.200 11 112143413 3 prime UTR variant T/C snv 0.16 0.010 1.000 1 2011 2011
dbSNP: rs360721
rs360721
3 0.882 0.200 11 112155193 intron variant G/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs795467
rs795467
2 0.925 0.120 11 112160357 intron variant G/A;C;T snv 0.010 1.000 1 2007 2007
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: 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: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.020 1.000 2 2017 2019
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: rs6686734
rs6686734
1 1.000 0.120 1 12008884 intron variant T/C snv 0.71 0.700 1.000 1 2015 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: rs45616239
rs45616239
2 0.925 0.120 4 122335010 intron variant T/C snv 0.13 0.700 1.000 1 2015 2015
dbSNP: rs17389644
rs17389644
3 0.925 0.120 4 122576542 intergenic variant G/A;T snv 0.710 1.000 2 2015 2018