Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1463038513 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 36 | |||
rs777980327 | 0.716 | 0.280 | 5 | 112837567 | missense variant | A/T | snv | 4.0E-06 | 7.0E-06 | 21 | |
rs1801166 | 0.732 | 0.200 | 5 | 112839543 | missense variant | G/C | snv | 4.4E-03 | 5.6E-03 | 17 | |
rs137854573 | 0.807 | 0.120 | 5 | 112828889 | stop gained | C/T | snv | 10 | |||
rs2229992 | 0.827 | 0.200 | 5 | 112827157 | stop gained | T/C;G | snv | 0.58 | 0.47 | 6 | |
rs137854574 | 0.925 | 0.120 | 5 | 112828919 | stop gained | C/T | snv | 4 | |||
rs1130409 | 0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 | 72 | ||
rs34301344 | 0.689 | 0.400 | 13 | 49630893 | stop gained | G/A | snv | 9.7E-03 | 7.9E-03 | 22 | |
rs3803185 | 0.708 | 0.320 | 13 | 49630889 | missense variant | T/C;G | snv | 0.39 | 19 | ||
rs755100942 | 0.724 | 0.320 | 13 | 49630894 | stop gained | G/A | snv | 4.2E-06 | 17 | ||
rs1801516 | 0.627 | 0.400 | 11 | 108304735 | missense variant | G/A | snv | 0.11 | 0.11 | 39 | |
rs776225963 | 19 | 35555490 | missense variant | G/A;T | snv | 1.1E-04 | 1 | ||||
rs2273535 | 0.645 | 0.360 | 20 | 56386485 | missense variant | A/C;T | snv | 0.28 | 38 | ||
rs121908568 | 0.807 | 0.160 | 17 | 65536495 | stop gained | G/A | snv | 9 | |||
rs780634396 | 0.882 | 0.120 | 18 | 63318618 | missense variant | T/C | snv | 4.0E-06 | 5 | ||
rs17878467 | 0.925 | 0.080 | 17 | 78214076 | upstream gene variant | C/G;T | snv | 6 | |||
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 | |||
rs121913338 | 0.677 | 0.400 | 7 | 140753354 | missense variant | T/A;C;G | snv | 24 | |||
rs121913369 | 0.790 | 0.280 | 7 | 140753346 | missense variant | G/A;C | snv | 4.0E-06 | 12 | ||
rs62625307 | 0.827 | 0.200 | 17 | 43091933 | stop gained | G/A | snv | 4.0E-06 | 8 | ||
rs397509039 | 1.000 | 0.200 | 17 | 43092379 | missense variant | G/A;C | snv | 2 | |||
rs1048638 | 0.807 | 0.160 | 9 | 35681125 | 3 prime UTR variant | C/A;G | snv | 10 | |||
rs7214723 | 0.882 | 0.080 | 17 | 3872554 | missense variant | T/C | snv | 0.45 | 0.36 | 4 | |
rs6886 | 0.925 | 0.160 | 2 | 85394936 | missense variant | T/A;C | snv | 0.58 | 4 |