Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104894385 0.925 0.120 13 76992176 stop gained G/A;T snv 2.7E-05; 3.1E-05 2
rs104894386 0.925 0.120 13 76995077 missense variant G/A;C snv 8.0E-06 2
rs1057516390 1.000 0.120 13 76995901 splice acceptor variant G/- del 1
rs1057516814 1.000 0.120 13 76992171 frameshift variant TC/G delins 1
rs1057517134 1.000 0.120 13 76992250 frameshift variant ACTGGCCGGTGCC/- delins 1
rs121908292 1.000 0.120 13 77000799 stop gained G/T snv 1
rs147065248 1.000 0.120 13 76996034 missense variant T/C snv 1.2E-05 7.0E-06 1
rs148862100 1.000 0.120 13 77000866 missense variant A/G snv 1.3E-05 7.0E-06 1
rs1555273567 1.000 0.120 13 76992116 frameshift variant C/- del 1
rs1555273609 1.000 0.120 13 76992215 frameshift variant G/- delins 1
rs1555273882 1.000 0.120 13 76995079 frameshift variant C/- delins 1
rs1555273992 1.000 0.120 13 76995998 frameshift variant T/- delins 1
rs1555274005 1.000 0.120 13 76996071 frameshift variant -/TGATG delins 1
rs1555274014 1.000 0.120 13 76996128 splice donor variant G/A snv 1
rs1555274312 1.000 0.120 13 77000416 splice acceptor variant GCTTTGTTCACTAGGTGACTTTGTTTTGTTTTTTTAAACTAGGAAACATGTTCAACCAAATGGCAAAGTGGGTGAAACAGGACAATGAAACAGGAATTTATTATGAGACATGGAATGTAAAAGCCAGCCCAGAAAAGGGGGCAGAGACATGGTTTGATTCCTACGACTGTTCCAAATTTGTGTTAAGGACCTTTAACAAGTTGGCTGAATTTGGAGCAGAGTTCAAGAACATAGAAACCAACTATACAAGAATATTTCTTTACAGTGGAGAACCTACTTATCTGGGAAATGAAACATCTGTTTTTGGGCCAACAGGAAACAAGACTCTTGGTTTAGCCATAAAAAGATTTTATTACCCCTTCAAACCACATTTGCCAACTAAAGAATTTCTGTTGAGTCTCTTGCAAATTTTTGATGCAGTGATTGTGCACAAACAGTTCTATTTGTTTTATAATTTTGAATATTGGTTTTTACCTATGAAATTCCCTTTTATTAAAATAACATATGAAGAAATCCCTTTACCTATCAGAAACAAAACACTCTCTGGTTTATAAAACACCTTAATTCTACTGCTCTTTTTTCTCCAATCACCAGCATCTG/- del 1
rs1555274337 1.000 0.120 13 77000556 frameshift variant -/CAGAGACA delins 1
rs1555274338 1.000 0.120 13 77000567 stop gained G/A;C snv 2
rs1555274343 1.000 0.120 13 77000594 frameshift variant GT/- delins 1
rs1555274344 1.000 0.120 13 77000605 frameshift variant CCTTTAAC/- del 1
rs1555274365 1.000 0.120 13 77000729 frameshift variant GGAA/- delins 1
rs1555274369 1.000 0.120 13 77000796 frameshift variant A/- delins 1
rs1555274373 1.000 0.120 13 77000808 frameshift variant T/- delins 1
rs1555274387 1.000 0.120 13 77000883 frameshift variant T/- delins 1
rs1566219136 1.000 0.120 13 76995993 missense variant G/A snv 1
rs200348035 1.000 0.120 13 76992182 stop gained G/A;T snv 4.5E-06 1