Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs28933979
TTR
0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 70
rs121912438 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 58
rs121918459 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 47
rs867410737 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 45
rs1569548274 0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins 43
rs61755320 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 41
rs1556425596 0.752 0.240 21 45989967 intron variant C/T snv 37
rs28937900 0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 37
rs1559931177 0.827 0.120 3 49047207 stop gained G/A snv 34
rs146539065 0.752 0.240 4 25145092 synonymous variant C/T snv 2.8E-05 4.2E-05 34
rs776969714 0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 34
rs1569518070 0.752 0.480 21 45989088 inframe deletion AAC/- del 33
rs1562846694 0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins 32
rs151344517 0.742 0.320 18 12337505 missense variant C/T snv 31
rs1064795559 0.752 0.320 22 30946373 missense variant G/A snv 29
rs267607261 0.807 0.280 2 27312753 stop gained C/T snv 8.0E-06 28
rs368900406 0.827 0.160 2 27312255 non coding transcript exon variant A/C snv 8.0E-06 2.1E-05 27
rs1555206402 0.790 0.320 11 119093274 stop lost GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- delins 26
rs1554699491 0.763 0.280 9 85596450 splice acceptor variant C/A snv 23
rs780631499 0.763 0.280 9 85588465 frameshift variant G/- del 4.0E-06 7.0E-06 23
rs80338800 0.827 0.120 15 42387803 frameshift variant A/- delins 21
rs1566785444 0.827 0.200 14 77025671 frameshift variant C/- delins 20
rs80356616 0.732 0.360 11 17387917 missense variant C/T snv 19
rs1555377415 0.827 0.200 14 77027274 stop gained G/C snv 18
rs1805123 0.724 0.280 7 150948446 missense variant T/A;C;G snv 1.3E-05; 0.18; 8.4E-06 18