Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs368869806 | 0.614 | 0.480 | 9 | 95485875 | splice acceptor variant | C/T | snv | 4.0E-06 | 7.0E-06 | 97 | |
rs114925667 | 0.672 | 0.520 | 3 | 132675903 | missense variant | G/A;T | snv | 1.9E-03; 4.1E-06 | 64 | ||
rs1560755661 | 0.701 | 0.480 | 4 | 106171094 | splice donor variant | CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- | delins | 44 | |||
rs267606826 | 0.708 | 0.520 | 14 | 28767903 | stop gained | C/A;G;T | snv | 38 | |||
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 | |||
rs1562846694 | 0.763 | 0.320 | 7 | 100643252 | inframe deletion | TTCGCTCCACGCACT/- | delins | 32 | |||
rs142239530 | 0.790 | 0.320 | 11 | 4091328 | missense variant | C/G;T | snv | 4.4E-05 | 24 | ||
rs587784177 | 0.790 | 0.280 | 5 | 177283827 | missense variant | G/A | snv | 20 | |||
rs1568269273 | 0.807 | 0.320 | 19 | 13025433 | missense variant | G/A | snv | 18 | |||
rs1557612048 | 0.807 | 0.200 | 1 | 26767868 | missense variant | T/C | snv | 11 | |||
rs387907329 | 0.827 | 0.200 | X | 49075573 | stop gained | G/A;T | snv | 5.5E-06 | 10 | ||
rs1131692230 | 0.807 | 0.160 | X | 19353124 | missense variant | A/G | snv | 9 | |||
rs746800707 | 0.851 | 0.160 | 20 | 36240388 | missense variant | G/A;C;T | snv | 1.2E-05; 4.0E-06 | 8 | ||
rs1114167295 | 0.827 | 0.160 | X | 54812169 | frameshift variant | C/- | del | 6 | |||
rs1114167296 | 0.827 | 0.160 | X | 34656995 | missense variant | C/G | snv | 6 | |||
rs61751035 | 0.882 | 0.160 | 1 | 213242186 | missense variant | G/A | snv | 2.4E-05 | 1.4E-05 | 6 | |
rs1114167297 | 0.851 | 0.160 | 10 | 32019912 | missense variant | T/C | snv | 5 | |||
rs1114167298 | 0.882 | 0.120 | 3 | 6861849 | missense variant | T/C | snv | 7.0E-06 | 5 |