Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1564855725 0.882 0.160 11 6617621 splice region variant C/T snv 5
rs750033880 0.925 0.120 7 66633302 missense variant G/A snv 1.4E-05 3
rs1057516677 0.925 0.120 16 28477875 stop gained G/T snv 2
rs113019349 0.925 0.120 11 6616004 splice donor variant C/G;T snv 2
rs121908080 0.925 0.120 15 68211698 inframe deletion ATG/- delins 2
rs121908199 0.925 0.120 11 6615542 missense variant C/T snv 2
rs1554902052 0.925 0.120 11 6617430 splice acceptor variant T/C snv 2
rs1554902216 0.925 0.120 11 6618820 frameshift variant AG/- delins 2
rs1555468634 0.925 0.120 16 28485965 splice donor variant ATTGCAATCATAATCAAGTTTTCTTTTCTTTCTTTTTTTTTTTTTCTTCCTGAGACAGAGTCTAACTCTGTCGCCCGGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCCACCACTGCCTCCGGGGTTCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGTTGGGACTACAGGCACCCGCCACCACACCTGGCTAATTGTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCCTGACCTTAGGCGATCTGCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCCATGGCCAAGTTTTCTCTCCTTGGACCCCTCTCCCTCCCGGCTCAGGGCAGCTCACCTGGCCAGCAGCAGGGCAGGGATACCCAGCATGGACAGCAGGGTCTGCTGAGGGGAGAGGCCGGCCTGGGTGAGGCCCAGGTAGGACAGGGCCCCCAGCAGCCCAGCTCCCCCAGTCCCTGAGGACCACCAGGAGATCACGGCCCTGGGAAGGAGAACACAGGAACATTCAGGAGGACCTAGGCTGACCATGGGACAGCCTCTCCCCACACTCCCTGCTCCACCTGCTTACCTGGGGTAGAAGGCAGTGAGGGAGAGGAAGGTGACCTCCCCAAGGCCTGATGAGATGCTAGCGAAGACCACACCTGGGGGGAGGACAAGCACTGGGATGGTCACACCACACCTTGCCACACTGCCCAGGCCTCTAATGTGTCTGGCCATGGCCTCCTCAGTATCAGCTCATAGAGGCTCCAATAGATCCCATGCATAGGCCAGGTTCCAGGTCTGAAGCAGAGCCCCACTCCCCTGCGTGTCCCTTCATGGAGAGTGGCACCTCCATCCACCCAGTTATCAGACCAGGGGCAGACATGCACCCTTGATGTCTCTGCCCCTTCATCAGTCTTTTTCTTTTCTTTTCTTTTTGGA/- del 2
rs386833645 0.925 0.120 1 40097236 start lost C/T snv 1.4E-05 2
rs386833651 0.925 0.120 1 40089409 splice donor variant C/T snv 2
rs386833698 0.925 0.120 16 28482102 splice region variant T/G snv 2
rs386833709 0.925 0.120 16 28489298 stop gained G/A snv 1.4E-05 2
rs386833732 0.925 0.120 16 28486455 frameshift variant C/-;CC delins 2
rs386833966 0.925 0.120 13 77000824 frameshift variant T/- delins 2
rs386833967 0.925 0.120 13 77000845 frameshift variant AACA/- delins 2.8E-05 2
rs386833969 0.925 0.120 13 77000918 frameshift variant AT/- delins 2
rs386833975 0.925 0.120 13 76995990 missense variant A/G snv 2
rs386833979 0.925 0.120 13 76996083 frameshift variant -/C delins 2
rs587776892 0.925 0.120 20 63930871 inframe deletion CTC/- delins 2
rs63751177
GRN
1.000 0.120 17 44351438 stop gained G/A snv 2
rs768422260 0.925 0.120 15 68208280 inframe deletion GAG/- delins 1.4E-05 2
rs786204644 0.925 0.120 13 77000667 frameshift variant AT/- delins 2
rs786204753 0.925 0.120 11 6615217 stop gained C/T snv 2
rs1060502179 1.000 0.120 11 6618823 missense variant A/C snv 7.0E-06 1