Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs752914124 | 0.827 | 0.280 | 17 | 80210679 | stop gained | GGAGGTCCTTG/- | del | 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 | |
rs121909398 | 0.827 | 0.080 | 2 | 181558617 | stop gained | G/A;C | snv | 3.5E-04; 4.0E-06 | 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 | |
rs76157638 | 0.851 | 0.080 | 1 | 94051698 | missense variant | C/G;T | snv | 4.4E-03; 4.0E-06 | 6 | ||
rs1052954321 | 0.882 | 4 | 112427580 | missense variant | C/T | snv | 6 | ||||
rs764109067 | 0.851 | 0.280 | 3 | 94036664 | missense variant | G/A;T | snv | 4.0E-06 | 6 | ||
rs61750173 | 0.827 | 0.080 | 17 | 8014701 | missense variant | G/A | snv | 6 | |||
rs61755798 | 0.827 | 0.080 | 6 | 42704564 | missense variant | G/A;C | snv | 6 | |||
rs61752871 | 0.827 | 0.080 | 1 | 68444858 | missense variant | G/A | snv | 5.6E-05 | 6.3E-05 | 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 | |
rs200691042 | 0.851 | 0.080 | 2 | 61839695 | stop gained | T/A | snv | 2.8E-04 | 2.9E-04 | 5 | |
rs386834261 | 0.882 | 0.080 | 14 | 67729337 | frameshift variant | CCCTG/- | delins | 9.1E-05 | 5 | ||
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 | |
rs747835249 | 0.882 | 0.200 | 12 | 88114418 | splice donor variant | CA/- | delins | 2.0E-05 | 4 | ||
rs765919785 | 0.882 | 0.080 | 21 | 45477409 | splice acceptor variant | A/G | snv | 8.2E-06 | 2.8E-05 | 4 | |
rs137853137 | 0.882 | 0.080 | 1 | 197427726 | stop gained | A/T | snv | 5.2E-05 | 1.3E-04 | 4 | |
rs112029032 | 0.882 | 0.160 | 8 | 43199504 | missense variant | G/A | snv | 4.1E-03 | 3.6E-03 | 4 |