Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1554700718 | 0.658 | 0.360 | 9 | 83975540 | non coding transcript exon variant | T/C | snv | 59 | |||
rs200661329 | 0.708 | 0.440 | 16 | 576255 | splice donor variant | G/A;C | snv | 5.7E-05 | 48 | ||
rs1560755661 | 0.701 | 0.480 | 4 | 106171094 | splice donor variant | CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- | delins | 44 | |||
rs886041065 | 0.677 | 0.600 | 2 | 25743913 | frameshift variant | G/- | delins | 43 | |||
rs121913355 | 0.641 | 0.520 | 7 | 140781602 | missense variant | C/A;G;T | snv | 4.0E-06 | 42 | ||
rs79184941 | 0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 | 41 | ||
rs397507520 | 0.658 | 0.520 | 12 | 112453279 | missense variant | G/C;T | snv | 39 | |||
rs1559931177 | 0.827 | 0.120 | 3 | 49047207 | stop gained | G/A | snv | 34 | |||
rs1331463984 | 0.701 | 0.240 | 16 | 2176350 | missense variant | G/A | snv | 33 | |||
rs875989800 | 0.732 | 0.480 | 22 | 23833670 | inframe deletion | AGA/- | delins | 33 | |||
rs121918455 | 0.695 | 0.440 | 12 | 112477720 | missense variant | A/C;G | snv | 31 | |||
rs267607261 | 0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 | 28 | ||
rs77543610 | 0.667 | 0.560 | 10 | 121520160 | missense variant | G/C | snv | 28 | |||
rs121918460 | 0.708 | 0.400 | 12 | 112450364 | missense variant | T/A;G | snv | 4.0E-06 | 27 | ||
rs397517148 | 0.776 | 0.200 | 2 | 39023128 | missense variant | C/T | snv | 27 | |||
rs1569509136 | 0.708 | 0.400 | X | 53647576 | splice acceptor variant | T/C | snv | 24 | |||
rs1555429629 | 0.763 | 0.200 | 15 | 40729632 | missense variant | G/A | snv | 23 | |||
rs672601334 | 0.752 | 0.400 | 1 | 155904798 | missense variant | G/C | snv | 18 | |||
rs727503109 | 0.752 | 0.320 | 12 | 25245277 | missense variant | T/C | snv | 17 | |||
rs1554768245 | 0.807 | 0.160 | 6 | 152472395 | frameshift variant | C/- | delins | 16 | |||
rs1555741826 | 0.776 | 0.280 | 19 | 49601646 | frameshift variant | TGCC/- | delins | 16 | |||
rs1563686762 | 0.790 | 0.280 | 8 | 116847620 | inframe deletion | GTT/- | delins | 16 | |||
rs397517154 | 0.763 | 0.280 | 2 | 39022773 | missense variant | C/A;G;T | snv | 4.0E-06 | 16 | ||
rs730881014 | 0.776 | 0.360 | 1 | 155904494 | stop gained | A/C;G;T | snv | 15 | |||
rs1060503383 | 0.882 | 0.200 | 6 | 33441318 | stop gained | C/T | snv | 14 |