Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs773080572 1.000 0.040 3 1295712 stop gained C/A snv 1
rs1553368900 1.000 0.040 2 50925810 splice acceptor variant CACAATCCAGAAACCAACAAATGTTCAGAAAGAAGTTCAACTTACCATCTAACTTCAAGATGTACCCTATTAGTACTAAGAAATAAAGGACAAATGAGAGTTGGAAAAATAAGGTAGAAAGCACCCACCTTCCACATTGTTGTCTTCTGAAAGCACATGACAAGGAGGGAGAGAAAAGGAAAAACATTCATTAAGCAGCATGCAGACTGGACCTTGCCTTTGCATGTCTTCCTCATGCAAGGCACCAAACACATCATGCAAGTGCTCCATCACTATCATTCAAGGGGGAAAACAAAATCACAGGGAAGCAGGTTCCCTCCCATTGGCAGCATTGATAGGAAGTGAGACAAACTTTCATAATACTGCCATGCCCTGTGCAAAGAGTTTTTAAAAAAATCTTTCAACTACCCAGTATAAAGCAAACATTATTGTTATTACATGTTGCTGGTG/- del 1
rs1057518850 1.000 0.040 X 147928320 splice acceptor variant A/G snv 2
rs879255530 0.925 0.160 14 28767832 missense variant A/T snv 2
rs1569485503 1.000 0.040 X 71167697 missense variant C/T snv 2
rs1553510171 1.000 0.040 2 161416881 frameshift variant C/- del 2
rs1553510217 1.000 0.040 2 161417083 missense variant A/T snv 2
rs1553510280 1.000 0.040 2 161417690 frameshift variant GTTTTAA/- delins 2
rs1553510313 1.000 0.040 2 161417827 stop gained C/T snv 2
rs1553510385 1.000 0.040 2 161418249 stop gained G/A snv 2
rs1553510680 1.000 0.040 2 161420241 frameshift variant -/G delins 2
rs1553511175 1.000 0.040 2 161423547 frameshift variant ACG/CA delins 2
rs1553511216 1.000 0.040 2 161423815 frameshift variant -/GCCCGCAGTC delins 2
rs1553511226 1.000 0.040 2 161423830 frameshift variant GC/- delins 2
rs762713626 1.000 0.040 2 161420222 missense variant C/G;T snv 4.0E-06 7.0E-06 2
rs727504031 0.925 0.200 X 43949981 missense variant G/A snv 3
rs1553510301 0.925 0.040 2 161417794 missense variant T/C snv 3
rs869312678 0.925 0.160 22 42209920 frameshift variant CA/- delins 3
rs777843533 0.925 0.160 10 79307487 frameshift variant -/C delins 3
rs1554904772 0.882 0.280 11 1443490 missense variant G/A snv 4
rs766858016 0.882 0.200 2 25247710 stop gained T/A;G snv 4.0E-06 4
rs869312699 0.925 0.160 11 120986102 protein altering variant CTGGCGCAGGAGGCC/GCT delins 4
rs534517447 0.925 0.160 11 120956935 missense variant G/A snv 2.9E-05 7.0E-06 4
rs1555103646 1.000 0.040 12 13569964 missense variant C/A snv 4
rs1085308042 0.882 0.120 10 87894076 missense variant G/A snv 4