Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs6265 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 272 | |
rs759834365 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 237 | ||
rs752298579 | 0.701 | 0.480 | 22 | 20061538 | missense variant | G/A | snv | 1.4E-04 | 7.0E-06 | 48 | |
rs1564045331 | 0.716 | 0.320 | 9 | 97687208 | inframe deletion | ATTCTT/- | delins | 35 | |||
rs778543124 | 0.716 | 0.320 | 9 | 97675476 | frameshift variant | AGTCTTACGGTACA/- | delins | 6.8E-05 | 6.3E-05 | 35 | |
rs370717845 | 0.763 | 0.320 | 8 | 43161462 | missense variant | G/A | snv | 33 | |||
rs375817528 | 0.776 | 0.160 | 11 | 65206824 | splice region variant | G/A | snv | 1.2E-04 | 1.2E-04 | 25 | |
rs63750231 | 0.689 | 0.160 | 14 | 73198100 | missense variant | A/C;G | snv | 23 | |||
rs148881970 | 0.724 | 0.360 | 17 | 42543840 | missense variant | A/G | snv | 5.4E-05 | 1.3E-04 | 22 | |
rs555145190 | 0.732 | 0.360 | 17 | 42543921 | stop gained | G/A;C;T | snv | 4.2E-06 | 21 | ||
rs267606959 | 0.732 | 0.200 | 15 | 89318986 | missense variant | G/A | snv | 2.0E-05 | 19 | ||
rs398122394 | 0.763 | 0.240 | X | 111685040 | missense variant | A/G | snv | 17 | |||
rs1990622 | 0.742 | 0.200 | 7 | 12244161 | downstream gene variant | A/G | snv | 0.52 | 16 | ||
rs35135520 | 0.827 | 0.200 | 19 | 39480879 | stop gained | C/A;G;T | snv | 3.1E-03; 4.6E-06 | 12 | ||
rs776019250 | 0.827 | 0.200 | 19 | 39482885 | stop gained | G/C;T | snv | 4.0E-06 | 12 | ||
rs12273363 | 0.807 | 0.120 | 11 | 27723312 | intron variant | T/C | snv | 0.16 | 11 | ||
rs774843232 | 0.851 | 0.080 | 11 | 3825024 | missense variant | G/A;C;T | snv | 8.0E-06; 3.6E-05; 1.2E-05 | 9 | ||
rs363050 | 0.790 | 0.240 | 20 | 10253609 | intron variant | G/A | snv | 0.57 | 8 | ||
rs908867 | 0.851 | 0.160 | 11 | 27724217 | intron variant | C/G;T | snv | 7 | |||
rs2298813 | 0.790 | 0.120 | 11 | 121522975 | missense variant | G/A;T | snv | 7.2E-02; 4.0E-06 | 7 | ||
rs704180 | 0.807 | 0.240 | 12 | 21841177 | intron variant | A/G | snv | 0.55 | 6 | ||
rs730882249 | 0.882 | 0.120 | 7 | 100105981 | stop gained | C/T | snv | 4.0E-06 | 6 | ||
rs7127507 | 0.827 | 0.080 | 11 | 27693337 | intron variant | T/C | snv | 0.34 | 6 | ||
rs7354779 | 0.827 | 0.200 | 21 | 44250887 | missense variant | T/C | snv | 0.21 | 6 | ||
rs1114167300 | 0.925 | 0.040 | 3 | 7578878 | missense variant | C/T | snv | 6 |