Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs7997012 0.807 0.080 13 46837850 intron variant A/G snv 0.69 11
rs7973260 0.851 0.120 12 117937681 intron variant A/G snv 0.83 7
rs2253206 0.851 0.080 2 207527254 intron variant A/G snv 0.47 6
rs139438618 0.882 0.080 7 84008281 intron variant A/G snv 5.2E-02 5
rs174697 0.851 0.080 22 19966309 intron variant A/G snv 0.88 5
rs10968749 0.851 0.040 9 28752486 intergenic variant A/G snv 5.5E-02 4
rs17158930 0.851 0.040 7 111871082 intron variant A/G snv 0.25 4
rs12555870 0.925 0.040 9 23347726 intron variant A/G snv 0.36 3
rs140504 0.882 0.040 22 23285182 missense variant A/G snv 0.81 0.86 3
rs1411216 0.925 0.040 9 24520196 intergenic variant A/G snv 0.73 3
rs143405544 0.925 0.040 5 65459777 intron variant A/G snv 4.8E-03 3
rs17236239 0.882 0.040 7 147885213 intron variant A/G snv 0.26 3
rs182377406 0.925 0.040 11 67449378 upstream gene variant A/G snv 4.5E-04 3
rs3787283 0.882 0.040 20 10303770 intron variant A/G snv 0.34 3
rs77945277 0.925 0.040 14 34840969 intron variant A/G snv 4.9E-03 3
rs9364726 0.882 0.040 6 164236705 intergenic variant A/G snv 6.5E-02 3
rs10233018 0.925 0.040 7 117883655 non coding transcript exon variant A/G snv 0.53 2
rs2221540 0.925 0.040 11 132846474 intron variant A/G snv 0.11 2
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs53576 0.641 0.320 3 8762685 intron variant A/G;T snv 42
rs2710102 0.790 0.120 7 147877298 intron variant A/G;T snv 12
rs9862857 0.851 0.040 3 30453840 regulatory region variant A/G;T snv 4
rs2551941 0.925 0.040 2 207627419 upstream gene variant A/G;T snv 2
rs319924
EYS ; PHF3
0.925 0.040 6 63777354 intron variant A/G;T snv 2
rs4290270 0.724 0.320 12 72022455 synonymous variant A/T snv 0.57 0.55 17