Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs6026584 0.925 0.040 20 58894018 intron variant T/C snv 0.70 3
rs6123837 0.925 0.040 20 58890516 synonymous variant G/A snv 0.30 2
rs8259
BSG
0.776 0.200 19 582927 3 prime UTR variant T/A snv 0.39 9
rs9943582 0.807 0.120 11 57237593 upstream gene variant T/C snv 0.63 8
rs243864 0.925 0.080 16 55478410 intron variant T/G snv 0.19 3
rs17859821 1.000 0.040 16 55478141 intron variant G/A;C snv 0.11 2
rs243866 0.827 0.120 16 55477625 intron variant G/A snv 0.19 8
rs1249958 0.925 0.040 12 54582053 missense variant C/T snv 2.7E-02 3
rs34376731 0.925 0.040 12 54581014 missense variant C/T snv 4.6E-03 1.9E-02 2
rs104894229 0.564 0.600 11 534289 missense variant C/A;G;T snv 73
rs8193037 0.752 0.320 6 52186311 upstream gene variant G/A;T snv 12
rs2275913 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 105
rs200432861 1.000 0.040 6 51775844 missense variant G/A;C snv 2.4E-05; 2.0E-05 1
rs17740607
HDC
0.925 0.160 15 50263347 missense variant G/A;C snv 8.5E-02; 4.0E-06 2
rs2073440
HDC
0.851 0.200 15 50242317 missense variant T/G snv 3.4E-02 5.9E-02 4
rs3745297
HRC
0.790 0.120 19 49154952 missense variant A/C snv 0.41 0.38 10
rs4898 0.672 0.520 X 47585586 synonymous variant T/C snv 0.46 0.46 25
rs371401403 0.807 0.080 11 47335996 missense variant G/A;T snv 6.8E-05; 7.9E-05 6
rs958546 0.882 0.040 13 46259582 intron variant G/C snv 0.29 3
rs1800206 0.641 0.640 22 46218377 missense variant C/G snv 4.3E-02 4.2E-02 35
rs10423928 0.807 0.200 19 45679046 intron variant T/A snv 0.19 12
rs1800437 0.827 0.160 19 45678134 missense variant G/C snv 0.18 0.17 13
rs452159
ADA
1.000 0.040 20 44642461 intron variant G/T snv 0.28 2
rs587782951 0.807 0.080 20 44160305 missense variant G/T snv 6
rs1320702652 0.752 0.160 15 43824536 missense variant G/A snv 4.0E-06 11