Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs770374710 | 0.611 | 0.560 | 15 | 23645747 | frameshift variant | G/-;GG | delins | 87 | |||
rs1352010373 | 0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv | 73 | |||
rs1276519904 | 0.645 | 0.520 | 1 | 226071445 | missense variant | A/G | snv | 63 | |||
rs1010184002 | 0.689 | 0.400 | 6 | 42978878 | stop gained | C/T | snv | 7.0E-06 | 60 | ||
rs1554700718 | 0.658 | 0.360 | 9 | 83975540 | non coding transcript exon variant | T/C | snv | 59 | |||
rs1554888939 | 0.683 | 0.640 | 9 | 137798823 | missense variant | G/T | snv | 58 | |||
rs886040971 | 0.683 | 0.280 | 8 | 115604339 | stop gained | G/A;T | snv | 56 | |||
rs1554333853 | 0.689 | 0.320 | 7 | 40046006 | missense variant | A/G | snv | 54 | |||
rs796052243 | 0.695 | 0.520 | 4 | 122934574 | inframe deletion | CAA/- | delins | 54 | |||
rs1085307993 | 0.716 | 0.440 | 5 | 161331056 | missense variant | C/T | snv | 53 | |||
rs1553621496 | 0.677 | 0.440 | 2 | 209976305 | splice donor variant | T/G | snv | 53 | |||
rs1569355102 | 0.695 | 0.360 | 21 | 37472869 | frameshift variant | TAAC/- | delins | 51 | |||
rs104894228 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 48 | |||
rs1057519389 | 0.695 | 0.400 | 10 | 129957324 | missense variant | C/A;G;T | snv | 46 | |||
rs1557043622 | 0.695 | 0.400 | X | 48909843 | missense variant | C/A | snv | 46 | |||
rs1554317002 | 0.724 | 0.440 | 7 | 39950821 | frameshift variant | C/- | delins | 45 | |||
rs1557036768 | 0.708 | 0.320 | X | 53647390 | missense variant | C/T | snv | 44 | |||
rs1560755661 | 0.701 | 0.480 | 4 | 106171094 | splice donor variant | CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- | delins | 44 | |||
rs1553655558 | 0.752 | 0.360 | 2 | 229830831 | frameshift variant | A/- | delins | 43 | |||
rs1569548274 | 0.701 | 0.520 | X | 154030553 | splice acceptor variant | TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- | delins | 43 | |||
rs866294686 | 0.683 | 0.480 | 10 | 102657073 | stop gained | C/A;T | snv | 43 | |||
rs587782995 | 0.708 | 0.360 | 5 | 140114480 | missense variant | T/C | snv | 42 | |||
rs397507520 | 0.658 | 0.520 | 12 | 112453279 | missense variant | G/C;T | snv | 39 | |||
rs267606826 | 0.708 | 0.520 | 14 | 28767903 | stop gained | C/A;G;T | snv | 38 | |||
rs1555038111 | 0.701 | 0.480 | 11 | 118478153 | stop gained | T/G | snv | 37 |