Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs80338903 | 0.701 | 0.360 | 1 | 216247095 | frameshift variant | C/- | del | 7.6E-04 | 5.4E-04 | 25 | |
rs1800553 | 0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 | 17 | |
rs150726175 | 0.776 | 0.200 | 1 | 9982630 | missense variant | G/A | snv | 7.0E-04 | 8.5E-04 | 11 | |
rs61751374 | 0.776 | 0.160 | 1 | 94043413 | missense variant | G/A | snv | 1.7E-03 | 1.7E-03 | 10 | |
rs80338902 | 0.790 | 0.200 | 1 | 216247118 | missense variant | C/A | snv | 9.7E-04 | 1.3E-03 | 10 | |
rs1800728 | 0.807 | 0.080 | 1 | 94011395 | intron variant | A/G | snv | 2.3E-04 | 3.0E-04 | 8 | |
rs201471607 | 0.851 | 0.080 | 1 | 94046943 | missense variant | T/C | snv | 1.4E-04 | 7.7E-05 | 7 | |
rs61751392 | 0.827 | 0.080 | 1 | 94063250 | missense variant | A/G | snv | 1.5E-04 | 1.7E-04 | 7 | |
rs62645748 | 0.807 | 0.080 | 1 | 197434706 | missense variant | G/A | snv | 2.1E-04 | 2.2E-04 | 7 | |
rs61751383 | 0.827 | 0.080 | 1 | 94005500 | stop gained | G/A | snv | 2.8E-05 | 1.4E-05 | 6 | |
rs61752871 | 0.827 | 0.080 | 1 | 68444858 | missense variant | G/A | snv | 5.6E-05 | 6.3E-05 | 6 | |
rs76157638 | 0.851 | 0.080 | 1 | 94051698 | missense variant | C/G;T | snv | 4.4E-03; 4.0E-06 | 6 | ||
rs1762111 | 0.851 | 0.080 | 1 | 94021934 | missense variant | A/G | snv | 1.2E-03 | 1.3E-03 | 5 | |
rs61750654 | 0.925 | 0.120 | 1 | 94000870 | stop gained | G/A | snv | 2.0E-05 | 7.0E-06 | 5 | |
rs137853137 | 0.882 | 0.080 | 1 | 197427726 | stop gained | A/T | snv | 5.2E-05 | 1.3E-04 | 4 | |
rs61749409 | 0.882 | 0.080 | 1 | 94062710 | missense variant | G/A | snv | 4.4E-05 | 2.1E-05 | 4 | |
rs61751389 | 0.925 | 0.040 | 1 | 94007722 | frameshift variant | C/- | del | 2.8E-05 | 7.0E-06 | 4 | |
rs61751402 | 0.882 | 0.080 | 1 | 94029515 | missense variant | C/T | snv | 6.3E-05 | 5.6E-05 | 4 | |
rs61751404 | 0.882 | 0.080 | 1 | 94021340 | missense variant | G/A;C | snv | 3.2E-05; 4.0E-06 | 4 | ||
rs61751406 | 0.925 | 0.120 | 1 | 94014622 | missense variant | G/T | snv | 2.0E-05 | 2.8E-05 | 4 | |
rs61749451 | 0.925 | 0.080 | 1 | 94046922 | missense variant | G/A;T | snv | 2.0E-05; 3.6E-05 | 3 | ||
rs61750138 | 1.000 | 1 | 94030991 | splice region variant | C/A;T | snv | 1.2E-05 | 3 | |||
rs61750645 | 0.925 | 0.080 | 1 | 94001911 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 | 3 | ||
rs61751276 | 0.925 | 0.080 | 1 | 68449890 | splice region variant | C/T | snv | 7.6E-05 | 1.4E-04 | 3 | |
rs764759172 | 0.925 | 0.040 | 1 | 94080692 | frameshift variant | G/- | del | 3 |