Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs927062 | 0.925 | 0.120 | 14 | 32625843 | intron variant | A/G | snv | 0.22 | 2 | ||
rs671 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 116 | |
rs2363956 | 0.776 | 0.160 | 19 | 17283315 | missense variant | T/G | snv | 0.48 | 0.50 | 8 | |
rs1801155 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 42 | |
rs1463038513 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 36 | |||
rs459552 | 0.752 | 0.320 | 5 | 112841059 | missense variant | T/A;G | snv | 0.79 | 14 | ||
rs11954856 | 0.732 | 0.200 | 5 | 112751630 | intron variant | T/G | snv | 0.54 | 12 | ||
rs351771 | 0.882 | 0.120 | 5 | 112828864 | synonymous variant | G/A | snv | 0.65 | 0.59 | 3 | |
rs1130409 | 0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 | 72 | ||
rs10788679 | 0.925 | 0.120 | 1 | 17590467 | intron variant | A/G | snv | 0.59 | 2 | ||
rs2256787 | 0.925 | 0.120 | 1 | 17566321 | intron variant | A/C | snv | 0.93 | 2 | ||
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 | ||
rs74315464 | 0.882 | 0.120 | 22 | 50627048 | missense variant | G/A;C | snv | 4 | |||
rs751039340 | 0.882 | 0.120 | 22 | 50625459 | missense variant | C/A | snv | 4.2E-06 | 3 | ||
rs1801516 | 0.627 | 0.400 | 11 | 108304735 | missense variant | G/A | snv | 0.11 | 0.11 | 39 | |
rs732774 | 0.827 | 0.320 | 13 | 51949672 | missense variant | C/T | snv | 0.57 | 0.56 | 5 | |
rs1801243 | 0.851 | 0.200 | 13 | 51974004 | missense variant | A/C;T | snv | 0.44; 2.0E-05 | 4 | ||
rs2273535 | 0.645 | 0.360 | 20 | 56386485 | missense variant | A/C;T | snv | 0.28 | 38 | ||
rs12921862 | 0.763 | 0.200 | 16 | 331927 | intron variant | C/A | snv | 0.18 | 10 | ||
rs370681 | 0.807 | 0.200 | 16 | 342461 | intron variant | C/T | snv | 0.48 | 6 | ||
rs2240308 | 0.701 | 0.360 | 17 | 65558473 | missense variant | G/A | snv | 0.47 | 0.39 | 18 | |
rs3923087 | 0.827 | 0.160 | 17 | 65553143 | intron variant | T/C | snv | 0.58 | 5 | ||
rs8170 | 0.724 | 0.160 | 19 | 17278895 | synonymous variant | G/A | snv | 0.15 | 0.18 | 13 |