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 | |||
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs878854066 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 213 | |||
rs25487 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 205 | |
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
rs1799782 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 151 | |
rs861539 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 104 | |
rs6983267 | 0.578 | 0.440 | 8 | 127401060 | non coding transcript exon variant | G/T | snv | 0.37 | 62 | ||
rs10741657 | 0.637 | 0.520 | 11 | 14893332 | upstream gene variant | A/G | snv | 0.65 | 34 | ||
rs1447295 | 0.658 | 0.400 | 8 | 127472793 | intron variant | A/C;T | snv | 29 | |||
rs1799939 | 0.658 | 0.280 | 10 | 43114671 | missense variant | G/A;C;T | snv | 0.21 | 27 | ||
rs944289 | 0.742 | 0.200 | 14 | 36180040 | upstream gene variant | C/T | snv | 0.45 | 16 | ||
rs12794714 | 0.708 | 0.360 | 11 | 14892029 | synonymous variant | G/A | snv | 0.41 | 0.35 | 15 | |
rs965513 | 0.742 | 0.200 | 9 | 97793827 | intron variant | A/G;T | snv | 15 | |||
rs4646536 | 0.724 | 0.440 | 12 | 57764205 | intron variant | A/G | snv | 0.38 | 0.32 | 14 | |
rs2296241 | 0.763 | 0.200 | 20 | 54169680 | synonymous variant | G/A | snv | 0.49 | 0.51 | 12 | |
rs11214077 | 0.752 | 0.120 | 11 | 112087953 | missense variant | A/G | snv | 6.6E-03 | 6.7E-03 | 12 | |
rs34677591 | 0.742 | 0.120 | 11 | 112086941 | missense variant | G/A | snv | 7.5E-03 | 7.0E-03 | 12 | |
rs116909374 | 0.776 | 0.120 | 14 | 36269155 | regulatory region variant | C/T | snv | 2.3E-02 | 11 | ||
rs966423 | 0.776 | 0.200 | 2 | 217445617 | intron variant | C/G;T | snv | 11 | |||
rs10877012 | 0.763 | 0.280 | 12 | 57768302 | intron variant | G/C;T | snv | 10 | |||
rs927650 | 0.763 | 0.240 | 20 | 54156202 | intron variant | T/A;C | snv | 9 | |||
rs2439302 | 0.776 | 0.200 | 8 | 32574851 | intron variant | G/C | snv | 0.54 | 9 |