Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs61753219 | 0.672 | 0.400 | 6 | 42978330 | missense variant | G/A | snv | 3.6E-05 | 2.8E-05 | 64 | |
rs4647924 | 0.600 | 0.520 | 4 | 1801844 | missense variant | C/A;G;T | snv | 4.2E-06; 4.2E-06 | 49 | ||
rs752298579 | 0.701 | 0.480 | 22 | 20061538 | missense variant | G/A | snv | 1.4E-04 | 7.0E-06 | 48 | |
rs104894396 | 0.672 | 0.400 | 13 | 20189511 | stop gained | C/T | snv | 5.8E-04 | 1.1E-04 | 28 | |
rs113994097 | 0.724 | 0.400 | 15 | 89323426 | missense variant | C/G | snv | 9.7E-04 | 7.9E-04 | 22 | |
rs1558939623 | 0.732 | 0.480 | 2 | 174824479 | missense variant | C/T | snv | 19 | |||
rs765379963 | 0.701 | 0.520 | 1 | 165743172 | stop gained | G/A | snv | 1.2E-05 | 2.1E-05 | 19 | |
rs771409809 | 0.732 | 0.480 | 4 | 6301794 | stop gained | C/T | snv | 6.0E-05 | 7.0E-06 | 19 | |
rs72474224 | 0.708 | 0.440 | 13 | 20189473 | missense variant | C/A;T | snv | 7.7E-03 | 18 | ||
rs1553212868 | 0.807 | 0.280 | 1 | 151406264 | frameshift variant | G/- | delins | 17 | |||
rs1555817157 | 0.742 | 0.280 | 20 | 25339320 | frameshift variant | TCTTCCTCAGGCG/- | del | 16 | |||
rs1555741826 | 0.776 | 0.280 | 19 | 49601646 | frameshift variant | TGCC/- | delins | 16 | |||
rs199474657 | 0.752 | 0.360 | MT | 3243 | non coding transcript exon variant | A/G | snv | 15 | |||
rs1318358361 | 0.724 | 0.240 | 6 | 156778678 | missense variant | C/G | snv | 2.1E-05 | 13 | ||
rs80338948 | 0.763 | 0.280 | 13 | 20189155 | missense variant | G/A | snv | 1.2E-04 | 2.0E-04 | 12 | |
rs1135401743 | 0.776 | 0.320 | 2 | 42769785 | stop gained | C/A;T | snv | 4.0E-06 | 11 | ||
rs781214034 | 0.790 | 0.320 | 13 | 77903538 | missense variant | C/T | snv | 1.3E-04 | 2.8E-05 | 10 | |
rs111033299 | 0.763 | 0.280 | 13 | 20189299 | missense variant | C/T | snv | 4.8E-05 | 7.7E-05 | 10 | |
rs80358284 | 0.790 | 0.240 | 11 | 86952443 | missense variant | T/A;C | snv | 4.0E-06; 2.4E-05 | 10 | ||
rs28931593 | 0.776 | 0.200 | 13 | 20189358 | missense variant | C/T | snv | 7.0E-06 | 9 | ||
rs3774937 | 0.776 | 0.280 | 4 | 102513096 | intron variant | T/C | snv | 0.26 | 9 | ||
rs80356529 | 0.827 | 0.240 | 3 | 193643996 | missense variant | G/A;C | snv | 9 | |||
rs281874674 | 0.827 | 0.280 | X | 108597479 | missense variant | G/C;T | snv | 8 | |||
rs1566304640 | 0.827 | 0.280 | 13 | 77900593 | missense variant | G/A | snv | 8 | |||
rs1057517491 | 0.776 | 0.240 | 13 | 20189448 | frameshift variant | C/- | delins | 8 |