Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1560755661 | 0.701 | 0.480 | 4 | 106171094 | splice donor variant | CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- | delins | 44 | |||
rs61816761 | 0.658 | 0.640 | 1 | 152313385 | stop gained | G/A;T | snv | 9.4E-03; 8.0E-06 | 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 | |||
rs1553655558 | 0.752 | 0.360 | 2 | 229830831 | frameshift variant | A/- | delins | 43 | |||
rs121913355 | 0.641 | 0.520 | 7 | 140781602 | missense variant | C/A;G;T | snv | 4.0E-06 | 42 | ||
rs587782995 | 0.708 | 0.360 | 5 | 140114480 | missense variant | T/C | snv | 42 | |||
rs79184941 | 0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 | 41 | ||
rs121909224 | 0.627 | 0.560 | 10 | 87933147 | stop gained | C/G;T | snv | 1.2E-05 | 41 | ||
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 | |||
rs1556425596 | 0.752 | 0.240 | 21 | 45989967 | intron variant | C/T | snv | 37 | |||
rs1555038111 | 0.701 | 0.480 | 11 | 118478153 | stop gained | T/G | snv | 37 | |||
rs80338796 | 0.667 | 0.480 | 3 | 12604200 | missense variant | G/A;C | snv | 4.0E-06 | 37 | ||
rs878853250 | 0.752 | 0.360 | 12 | 51699663 | stop gained | T/A;C | snv | 37 | |||
rs387907145 | 0.695 | 0.440 | 16 | 4800548 | stop gained | G/A | snv | 36 | |||
rs180177035 | 0.752 | 0.280 | 7 | 140801502 | missense variant | T/C | snv | 35 | |||
rs786205124 | 0.701 | 0.400 | 16 | 4798593 | frameshift variant | G/-;GGG | delins | 3.5E-05 | 35 | ||
rs387907144 | 0.716 | 0.600 | 6 | 157181056 | stop gained | C/A;T | snv | 34 | |||
rs113871094 | 0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 34 | |||
rs1557781252 | 0.742 | 0.320 | 1 | 153816414 | stop gained | G/A | snv | 33 | |||
rs370717845 | 0.763 | 0.320 | 8 | 43161462 | missense variant | G/A | snv | 33 | |||
rs1034395178 | 0.716 | 0.480 | 22 | 20996071 | stop gained | C/A;T | snv | 4.0E-06; 8.0E-06 | 33 | ||
rs1331463984 | 0.701 | 0.240 | 16 | 2176350 | missense variant | G/A | snv | 33 | |||
rs1562846694 | 0.763 | 0.320 | 7 | 100643252 | inframe deletion | TTCGCTCCACGCACT/- | delins | 32 |