Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs749303395 0.882 0.040 1 114680329 missense variant G/A;C snv 8.0E-06; 4.0E-06 3
rs567798234 0.851 0.120 1 109625326 missense variant C/T snv 4.1E-06 7.0E-06 5
rs9943582 0.807 0.120 11 57237593 upstream gene variant T/C snv 0.63 8
rs1253810269 0.882 0.080 1 26696971 missense variant G/A snv 7.0E-06 3
rs991104525 0.882 0.160 5 78969051 missense variant G/A snv 1.2E-05 7.7E-05 4
rs1860561 0.851 0.080 12 110345436 intron variant G/A snv 0.19 5
rs73956431 0.827 0.120 18 31699870 regulatory region variant C/T snv 8.4E-02 6
rs397516881 0.827 0.120 10 119676917 missense variant G/A snv 7
rs8259
BSG
0.776 0.200 19 582927 3 prime UTR variant T/A snv 0.39 9
rs6684209 1.000 0.040 1 115707991 intron variant C/T snv 0.17 2
rs7521023 1.000 0.040 1 115700759 3 prime UTR variant G/A snv 0.64 2
rs1056892 0.882 0.160 21 36146408 missense variant G/A snv 0.37 0.39 6
rs140226130 0.790 0.200 18 33336845 intron variant -/CTTTTTGCT delins 7.8E-02 8
rs5443 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 106
rs10757278 0.620 0.520 9 22124478 intron variant A/G snv 0.40 44
rs10757274 0.701 0.320 9 22096056 intron variant A/G snv 0.41 22
rs2383207 0.695 0.280 9 22115960 intron variant A/G snv 0.64 22
rs2383206 0.742 0.320 9 22115027 intron variant A/G snv 0.49 17
rs10927887 0.925 0.040 1 16024780 missense variant A/C;G snv 0.55 3
rs398122917 0.882 0.080 X 155280059 missense variant G/C snv 4.4E-05 1.1E-04 5
rs10501920 0.882 0.080 11 99622442 intron variant C/G snv 0.14 3
rs911119 0.807 0.120 20 23632100 non coding transcript exon variant C/G;T snv 9
rs1799998 0.742 0.200 8 142918184 upstream gene variant A/G;T snv 0.38 14
rs535039125 0.851 0.040 19 41004380 missense variant C/T snv 1.1E-04 1.3E-04 5
rs1303946678 0.925 0.040 22 42126851 missense variant C/G snv 3