Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs12097901 | 0.851 | 0.120 | 1 | 231421509 | missense variant | C/G | snv | 0.10 | 0.15 | 4 | |
rs12740674 | 0.882 | 0.080 | 1 | 68121775 | intron variant | C/T | snv | 0.34 | 4 | ||
rs200100285 | 0.851 | 0.080 | 1 | 11796313 | missense variant | T/C;G | snv | 1.9E-04 | 4 | ||
rs2066826 | 0.851 | 0.160 | 1 | 186676795 | intron variant | C/T | snv | 0.14 | 0.19 | 4 | |
rs677844 | 0.851 | 0.080 | 1 | 12184261 | intron variant | T/C | snv | 0.22 | 4 | ||
rs928508 | 0.851 | 0.080 | 1 | 40757742 | intron variant | G/A;T | snv | 0.50 | 4 | ||
rs114020893 | 0.882 | 0.080 | 1 | 77887920 | non coding transcript exon variant | T/C | snv | 0.50 | 3 | ||
rs1305755801 | 0.882 | 0.080 | 1 | 223802799 | missense variant | G/A;T | snv | 8.0E-06; 4.0E-06 | 3 | ||
rs140118273 | 0.882 | 0.080 | 1 | 45329412 | missense variant | G/A;C | snv | 8.4E-03 | 3 | ||
rs1422012687 | 0.882 | 0.080 | 1 | 15524124 | stop gained | C/A;T | snv | 7.2E-06; 7.2E-06 | 3 | ||
rs200479241 | 0.882 | 0.080 | 1 | 186676073 | missense variant | T/C | snv | 2.1E-05 | 3 | ||
rs3131837 | 0.882 | 0.080 | 1 | 100252204 | non coding transcript exon variant | C/G | snv | 0.80 | 3 | ||
rs3219073 | 0.882 | 0.080 | 1 | 226381674 | intron variant | G/C | snv | 0.23 | 3 | ||
rs4839323 | 0.882 | 0.080 | 1 | 113515727 | intron variant | T/C | snv | 0.24 | 3 | ||
rs758760017 | 0.882 | 0.080 | 1 | 25863774 | synonymous variant | C/T | snv | 1.6E-05 | 7.0E-06 | 3 | |
rs778009684 | 0.882 | 0.080 | 1 | 20644539 | missense variant | C/T | snv | 2.8E-05 | 1.4E-05 | 3 | |
rs781742574 | 0.882 | 0.080 | 1 | 11800254 | missense variant | T/C | snv | 4.0E-06 | 3 | ||
rs868188 | 0.882 | 0.080 | 1 | 156937323 | missense variant | T/C | snv | 0.40 | 0.33 | 3 | |
rs16944 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 92 | ||
rs1056836 | 0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 | 58 | ||
rs1143634 | 0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 | 52 | |
rs2292832 | 0.605 | 0.640 | 2 | 240456086 | non coding transcript exon variant | T/A;C | snv | 0.59 | 46 | ||
rs3834129 | 0.627 | 0.560 | 2 | 201232809 | upstream gene variant | AGTAAG/- | del | 0.48 | 38 | ||
rs2241880 | 0.627 | 0.600 | 2 | 233274722 | missense variant | A/G | snv | 0.45 | 0.44 | 37 | |
rs1143623 | 0.677 | 0.440 | 2 | 112838252 | upstream gene variant | C/G | snv | 0.24 | 29 |