Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554700718 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 59
rs1555743003 0.701 0.520 18 33740444 splice donor variant G/A snv 58
rs1569548274 0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins 43
rs137852981 0.752 0.480 2 144399104 stop gained G/A snv 30
rs1060499548 0.724 0.440 9 130872961 missense variant G/A snv 27
rs121908188 0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04 25
rs199564797 0.742 0.360 1 25809150 missense variant G/A snv 1.2E-05 1.4E-05 25
rs745886248 0.742 0.360 1 25811710 missense variant G/A;C;T snv 4.3E-06; 4.3E-06; 4.3E-06 25
rs1064796765 0.763 0.240 14 102002950 missense variant G/A snv 19
rs1553154130 0.807 0.280 1 8358231 missense variant T/A;C snv 18
rs1057518848 0.827 0.240 18 55229003 frameshift variant -/ATTG delins 15
rs121908425 0.763 0.160 4 5748226 stop gained C/A;T snv 3.2E-05; 1.2E-05 14
rs1135401744 0.776 0.120 2 142918608 splice acceptor variant G/T snv 1.4E-04 14
rs1569309484 0.807 0.200 X 74591586 missense variant A/G snv 13
rs753317536
EVC
0.790 0.160 4 5719239 intron variant G/A;C snv 8.0E-06; 4.0E-06 12
rs139073416 0.882 0.240 1 26795056 missense variant C/A;T snv 1.2E-04 9