Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
rs104894228 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 48 | |||
rs121909224 | 0.627 | 0.560 | 10 | 87933147 | stop gained | C/G;T | snv | 1.2E-05 | 41 | ||
rs12203592 | 0.649 | 0.320 | 6 | 396321 | intron variant | C/T | snv | 0.10 | 38 | ||
rs180177035 | 0.752 | 0.280 | 7 | 140801502 | missense variant | T/C | snv | 35 | |||
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 | |
rs149617956 | 0.672 | 0.560 | 3 | 69964940 | missense variant | G/A | snv | 1.4E-03 | 1.6E-03 | 32 | |
rs121913227 | 0.653 | 0.320 | 7 | 140753336 | missense variant | AC/CT;TT | mnv | 31 | |||
rs121913254 | 0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv | 31 | |||
rs1554121443 | 0.742 | 0.280 | 6 | 33438873 | stop gained | C/T | snv | 29 | |||
rs11547328 | 0.701 | 0.360 | 12 | 57751648 | missense variant | G/A;T | snv | 4.0E-06 | 27 | ||
rs121913338 | 0.677 | 0.400 | 7 | 140753354 | missense variant | T/A;C;G | snv | 24 | |||
rs3731249 | 0.683 | 0.320 | 9 | 21970917 | missense variant | C/A;G;T | snv | 2.1E-02 | 23 | ||
rs28931614 | 0.672 | 0.520 | 4 | 1804392 | missense variant | G/A;C | snv | 21 | |||
rs121434595 | 0.708 | 0.320 | 1 | 114716124 | missense variant | C/A;G;T | snv | 19 | |||
rs12913832 | 0.763 | 0.200 | 15 | 28120472 | intron variant | A/G | snv | 0.50 | 15 | ||
rs121913535 | 0.742 | 0.320 | 12 | 25245348 | missense variant | C/A;G;T | snv | 14 | |||
rs771138120 | 0.827 | 0.120 | 9 | 21971191 | missense variant | G/A;C;T | snv | 9.1E-06; 4.5E-06 | 13 | ||
rs1554927408 | 0.742 | 0.480 | 10 | 121515254 | missense variant | C/T | snv | 12 | |||
rs1805006 | 0.790 | 0.080 | 16 | 89919510 | missense variant | C/A;G | snv | 5.2E-03; 4.0E-06 | 8 | ||
rs104894095 | 0.827 | 0.120 | 9 | 21971200 | missense variant | C/G;T | snv | 9.0E-06 | 6 | ||
rs1085308047 | 0.827 | 0.160 | 10 | 87864509 | missense variant | A/G | snv | 6 | |||
rs755660650 | 0.827 | 0.120 | 5 | 102498596 | missense variant | G/C | snv | 4.0E-06 | 5 |