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: rs117633859
rs117633859
1 1.000 0.120 1 67162145 intron variant A/G snv 2.6E-02 0.710 1.000 1 2014 2014
dbSNP: rs3021304
rs3021304
1 1.000 0.120 6 32607881 intergenic variant G/C snv 0.51 0.710 1.000 1 2014 2014
dbSNP: rs442309
rs442309
1 1.000 0.120 10 62730735 intron variant C/T snv 0.51 0.710 1.000 1 2014 2014
dbSNP: rs114800139
rs114800139
1 1.000 0.120 6 32460938 intron variant G/A snv 0.700 1.000 1 2014 2014
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: rs10863888
rs10863888
4 0.851 0.280 1 211329427 intron variant A/C;G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs12569232
rs12569232
4 0.882 0.280 1 211379722 intron variant G/C;T snv 0.010 1.000 1 2014 2014
dbSNP: rs13210247
rs13210247
3 0.882 0.280 6 111601517 non coding transcript exon variant A/G snv 0.10 0.010 1.000 1 2014 2014
dbSNP: rs1343151
rs1343151
10 0.752 0.400 1 67253446 intron variant G/A snv 0.41 0.010 1.000 1 2010 2010
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2016 2016
dbSNP: rs1800779
rs1800779
9 0.763 0.320 7 150992855 intron variant G/A;C snv 0.010 < 0.001 1 2016 2016
dbSNP: rs1883832
rs1883832
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.010 < 0.001 1 2017 2017
dbSNP: rs1884444
rs1884444
34 0.637 0.600 1 67168129 missense variant G/T snv 0.52 0.51 0.010 1.000 1 2016 2016
dbSNP: rs2096525
rs2096525
6 0.827 0.280 22 23894632 non coding transcript exon variant T/C snv 0.20 0.20 0.010 1.000 1 2013 2013
dbSNP: rs2301436
rs2301436
11 0.752 0.320 6 167024500 intron variant C/T snv 0.42 0.010 1.000 1 2013 2013
dbSNP: rs231775
rs231775
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs2488457
rs2488457
11 0.763 0.480 1 113872746 intron variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs310236
rs310236
1 1.000 0.120 1 64868174 non coding transcript exon variant G/C snv 0.39 0.010 1.000 1 2013 2013
dbSNP: rs310241
rs310241
3 0.882 0.360 1 64837655 intron variant A/G snv 0.37 0.010 1.000 1 2013 2013
dbSNP: rs4703863
rs4703863
2 0.925 0.280 5 81980204 intron variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs4795067
rs4795067
3 0.882 0.280 17 27779649 intron variant A/G snv 0.31 0.010 < 0.001 1 2016 2016
dbSNP: rs573775
rs573775
4 0.851 0.320 6 106316991 intron variant G/A snv 0.34 0.010 1.000 1 2015 2015
dbSNP: rs6498169
rs6498169
6 0.807 0.280 16 11155472 non coding transcript exon variant G/A snv 0.66 0.010 1.000 1 2015 2015
dbSNP: rs7356506
rs7356506
CFI
4 0.851 0.120 4 109762298 non coding transcript exon variant G/A snv 0.63 0.010 1.000 1 2016 2016
dbSNP: rs755622
rs755622
44 0.611 0.720 22 23894205 intron variant G/C snv 0.26 0.010 1.000 1 2013 2013