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: rs12564445
rs12564445
5 0.851 0.040 1 201376359 intron variant G/A snv 0.27 0.010 < 0.001 1 2013 2013
dbSNP: rs12762303
rs12762303
4 0.851 0.080 10 45373723 upstream gene variant T/C snv 0.17 0.010 < 0.001 1 2008 2008
dbSNP: rs17228212
rs17228212
8 0.807 0.160 15 67166301 intron variant T/C snv 0.21 0.010 < 0.001 1 2013 2013
dbSNP: rs17465637
rs17465637
11 0.790 0.200 1 222650187 intron variant A/C;G;T snv 0.64; 6.4E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs1862513
rs1862513
11 0.763 0.360 19 7668907 upstream gene variant C/G;T snv 0.010 < 0.001 1 2011 2011
dbSNP: rs1927911
rs1927911
28 0.658 0.640 9 117707776 intron variant A/G snv 0.62 0.010 < 0.001 1 2017 2017
dbSNP: rs20551
rs20551
10 0.752 0.320 22 41152004 missense variant A/G snv 0.31 0.23 0.010 < 0.001 1 2015 2015
dbSNP: rs2066715
rs2066715
7 0.807 0.160 9 104825752 missense variant C/T snv 8.2E-02 5.5E-02 0.010 < 0.001 1 2015 2015
dbSNP: rs2167270
rs2167270
LEP
17 0.724 0.280 7 128241296 5 prime UTR variant G/A snv 0.37 0.010 < 0.001 1 2011 2011
dbSNP: rs2518136
rs2518136
4 0.851 0.120 3 186620038 intron variant T/C snv 0.46 0.010 < 0.001 1 2012 2012
dbSNP: rs5985
rs5985
20 0.724 0.280 6 6318562 missense variant C/A;T snv 0.20; 2.4E-05 0.010 < 0.001 1 2002 2002
dbSNP: rs755460305
rs755460305
4 0.882 0.080 3 186732650 missense variant C/A snv 0.010 < 0.001 1 2001 2001
dbSNP: rs759003763
rs759003763
6 0.827 0.120 19 11113585 missense variant G/A snv 0.010 < 0.001 1 2015 2015
dbSNP: rs76863441
rs76863441
25 0.672 0.440 6 46709361 missense variant C/A snv 4.5E-03 1.3E-03 0.010 < 0.001 1 2016 2016
dbSNP: rs7833904
rs7833904
3 0.882 0.040 8 58505103 upstream gene variant A/T snv 0.55 0.010 < 0.001 1 2015 2015
dbSNP: rs7895340
rs7895340
4 0.851 0.160 10 113041766 intron variant G/A snv 0.53 0.010 < 0.001 1 2008 2008
dbSNP: rs879254850
rs879254850
9 0.776 0.160 19 11113365 missense variant A/G;T snv 4.0E-06 0.010 < 0.001 1 2015 2015
dbSNP: rs9370867
rs9370867
7 0.827 0.120 6 16145094 missense variant A/G snv 0.60 0.63 0.010 < 0.001 1 2015 2015
dbSNP: rs1878406
rs1878406
7 0.807 0.200 4 147472512 intergenic variant C/A;G;T snv 0.810 0.500 2 2011 2014
dbSNP: rs501120
rs501120
10 0.763 0.240 10 44258419 downstream gene variant T/C snv 0.24 0.020 0.500 2 2012 2013
dbSNP: rs7903146
rs7903146
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.030 0.667 3 2008 2010
dbSNP: rs10846744
rs10846744
11 0.763 0.160 12 124827879 intron variant G/C snv 0.32 0.040 0.750 4 2010 2018
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.090 0.778 9 2002 2012
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.100 0.818 11 1999 2018
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 1.000 14 2000 2013