Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555144459 0.925 0.120 12 32841038 frameshift variant -/A delins 3
rs1555740394 0.882 0.120 19 49595234 frameshift variant -/ACCACCC delins 5
rs1553920379 0.776 0.160 4 101032294 frameshift variant -/AGTA delins 27
rs1555565492 0.776 0.160 17 17795417 frameshift variant -/G delins 18
rs1566823361 0.742 0.440 13 101726732 frameshift variant -/G delins 18
rs34808376 0.925 0.040 7 155456016 intron variant -/GC delins 2
rs3832300 1.000 0.040 4 47426318 3 prime UTR variant -/T delins 5.1E-02 2
rs1562114190 0.790 0.160 6 78946061 frameshift variant A/- delins 21
rs1555640521 0.790 0.320 18 6942110 frameshift variant A/- delins 15
rs1562134961 0.776 0.320 6 78969879 frameshift variant A/- delins 13
rs1555453538 0.807 0.280 15 89326678 frameshift variant A/- delins 7
rs10185592 1.000 0.040 2 205829457 intergenic variant A/C snv 0.11 1
rs1064794245 1.000 0.040 22 40349918 missense variant A/C snv 1
rs2217262 1.000 0.040 7 112156322 intron variant A/C snv 7.2E-02 1
rs6452305 1.000 0.040 5 25924513 intergenic variant A/C snv 0.69 1
rs9302952 1.000 0.040 17 73068087 non coding transcript exon variant A/C snv 0.14 1
rs876660634 0.807 0.200 10 87925551 missense variant A/C;G snv 10
rs2292305 0.882 0.080 15 39588621 missense variant A/C;G snv 4.0E-06; 0.16 4
rs1119032 1.000 0.040 5 140902846 intron variant A/C;G snv 1
rs12690517 1.000 0.040 2 181509807 splice region variant A/C;G snv 1
rs3797817
FER
1.000 0.040 5 108948641 intron variant A/C;G snv 1
rs854560 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 113
rs757511770 0.807 0.280 1 240092656 missense variant A/C;G;T snv 8.0E-06; 4.0E-06 9
rs2253031 1.000 0.040 7 147934809 intron variant A/C;G;T snv 1
rs1344706 0.701 0.160 2 184913701 intron variant A/C;T snv 21