Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121913507 | 0.614 | 0.400 | 4 | 54733155 | missense variant | A/T | snv | 49 | |||
rs3087243 | 0.623 | 0.720 | 2 | 203874196 | downstream gene variant | G/A | snv | 0.37 | 44 | ||
rs121918459 | 0.662 | 0.440 | 12 | 112450368 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 47 | |
rs1553621496 | 0.677 | 0.440 | 2 | 209976305 | splice donor variant | T/G | snv | 53 | |||
rs6277 | 0.689 | 0.480 | 11 | 113412737 | synonymous variant | G/A | snv | 0.41 | 0.38 | 36 | |
rs1560755661 | 0.701 | 0.480 | 4 | 106171094 | splice donor variant | CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- | delins | 44 | |||
rs1331463984 | 0.701 | 0.240 | 16 | 2176350 | missense variant | G/A | snv | 33 | |||
rs1554317002 | 0.724 | 0.440 | 7 | 39950821 | frameshift variant | C/- | delins | 45 | |||
rs4570625 | 0.724 | 0.200 | 12 | 71938143 | upstream gene variant | G/T | snv | 0.27 | 25 | ||
rs3091244 | 0.724 | 0.280 | 1 | 159714875 | upstream gene variant | G/A;T | snv | 17 | |||
rs224222 | 0.724 | 0.440 | 16 | 3254463 | missense variant | C/T | snv | 0.24 | 0.21 | 15 | |
rs151344517 | 0.742 | 0.320 | 18 | 12337505 | missense variant | C/T | snv | 31 | |||
rs2794521 | 0.742 | 0.480 | 1 | 159715306 | upstream gene variant | C/T | snv | 0.78 | 15 | ||
rs34778348 | 0.742 | 0.120 | 12 | 40363526 | missense variant | G/A | snv | 1.7E-03 | 5.8E-04 | 15 | |
rs1991517 | 0.752 | 0.240 | 14 | 81144239 | missense variant | G/C | snv | 0.90 | 0.91 | 13 | |
rs864321670 | 0.763 | 0.320 | 10 | 95633012 | missense variant | C/T | snv | 24 | |||
rs1057523354 | 0.763 | 0.480 | 13 | 110179387 | missense variant | C/A | snv | 13 | |||
rs1289543302 | 0.763 | 0.440 | 7 | 87536472 | missense variant | C/T | snv | 12 | |||
rs4251961 | 0.763 | 0.200 | 2 | 113116890 | intron variant | T/C | snv | 0.29 | 10 | ||
rs181109321 | 0.776 | 0.320 | 8 | 63065904 | splice region variant | C/A;T | snv | 2.0E-05 | 17 | ||
rs4129267 | 0.807 | 0.200 | 1 | 154453788 | intron variant | C/G;T | snv | 13 | |||
rs1559931177 | 0.827 | 0.120 | 3 | 49047207 | stop gained | G/A | snv | 34 | |||
rs4646437 | 0.827 | 0.200 | 7 | 99767460 | intron variant | G/A | snv | 0.30 | 8 | ||
rs2295633 | 0.827 | 0.120 | 1 | 46408711 | intron variant | A/G;T | snv | 7 | |||
rs1212171 | 0.851 | 0.120 | 9 | 84667612 | upstream gene variant | C/T | snv | 0.50 | 8 |