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: rs7574070
rs7574070
1 1.000 0.200 2 191145762 intron variant A/C snv 0.55 0.810 1.000 3 2012 2015
dbSNP: rs11642873
rs11642873
4 0.851 0.280 16 85958099 intergenic variant A/C snv 0.15 0.010 1.000 1 2016 2016
dbSNP: rs12119179
rs12119179
2 0.925 0.200 1 67281732 downstream gene variant A/C snv 0.30 0.010 1.000 1 2019 2019
dbSNP: rs1342326
rs1342326
9 0.790 0.360 9 6190076 intergenic variant A/C snv 0.21 0.010 1.000 1 2019 2019
dbSNP: rs7753873
rs7753873
3 0.882 0.320 6 137852285 intron variant A/C snv 0.18 0.010 1.000 1 2013 2013
dbSNP: rs1310182
rs1310182
4 0.882 0.360 1 113830881 intron variant A/C;G snv 0.56 0.010 < 0.001 1 2012 2012
dbSNP: rs2227981
rs2227981
12 0.763 0.400 2 241851121 synonymous variant A/C;G snv 1.6E-04; 0.63 0.010 1.000 1 2011 2011
dbSNP: rs6910516
rs6910516
1 1.000 0.200 6 31376050 non coding transcript exon variant A/C;G snv 0.700 1.000 1 2013 2013
dbSNP: rs7572482
rs7572482
1 1.000 0.200 2 191150346 intron variant A/C;G snv 0.800 1.000 1 2012 2012
dbSNP: rs854560
rs854560
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 1.000 1 2014 2014
dbSNP: rs3024490
rs3024490
11 0.742 0.520 1 206771966 intron variant A/C;G;T snv 0.710 0.500 2 2013 2017
dbSNP: rs10863888
rs10863888
4 0.851 0.280 1 211329427 intron variant A/C;G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs10515746
rs10515746
2 0.925 0.240 5 157109557 intron variant A/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 1.000 1 2012 2012
dbSNP: rs9316059
rs9316059
1 1.000 0.200 13 43912653 intron variant A/C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.090 1.000 9 2000 2019
dbSNP: rs1800871
rs1800871
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.830 0.800 5 2010 2017
dbSNP: rs17810546
rs17810546
7 0.827 0.440 3 159947262 intron variant A/G snv 8.2E-02 0.810 1.000 3 2013 2015
dbSNP: rs17576
rs17576
73 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 0.020 1.000 2 2015 2017
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.020 1.000 2 2007 2017
dbSNP: rs5498
rs5498
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.020 1.000 2 2010 2016
dbSNP: rs1048709
rs1048709
8 0.776 0.320 6 31947158 synonymous variant A/G snv 0.82 0.85 0.010 1.000 1 2016 2016
dbSNP: rs1126772
rs1126772
5 0.851 0.320 4 87983034 3 prime UTR variant A/G snv 0.16 0.010 1.000 1 2011 2011
dbSNP: rs1128503
rs1128503
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.010 1.000 1 2012 2012
dbSNP: rs12212193
rs12212193
2 0.925 0.280 6 90287050 intron variant A/G snv 0.38 0.010 < 0.001 1 2015 2015