Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2476601 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 121 | |
rs535586 | 0.882 | 0.160 | 6 | 31892560 | splice region variant | T/A;C | snv | 0.77 | 3 | ||
rs659445 | 0.882 | 0.160 | 6 | 31896527 | intron variant | G/A;C | snv | 0.77 | 0.76 | 3 | |
rs437179 | 0.882 | 0.160 | 6 | 31961237 | missense variant | A/C | snv | 0.76 | 0.78 | 3 | |
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
rs1883832 | 0.581 | 0.680 | 20 | 46118343 | 5 prime UTR variant | T/C | snv | 0.75 | 0.80 | 52 | |
rs708035 | 0.925 | 0.120 | 3 | 10234479 | missense variant | T/A | snv | 0.73 | 0.70 | 2 | |
rs1059702 | 0.807 | 0.280 | X | 154018741 | missense variant | A/G | snv | 0.72 | 7 | ||
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
rs3810936 | 0.742 | 0.320 | 9 | 114790605 | synonymous variant | T/C | snv | 0.71 | 0.75 | 12 | |
rs25487 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 205 | |
rs1061170 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 72 | |
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
rs7192 | 0.827 | 0.200 | 6 | 32443869 | missense variant | T/G | snv | 0.64 | 0.61 | 7 | |
rs1748033 | 0.925 | 0.120 | 1 | 17336167 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 2 | ||
rs2227981 | 0.763 | 0.400 | 2 | 241851121 | synonymous variant | A/C;G | snv | 1.6E-04; 0.63 | 12 | ||
rs2228570 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 99 | ||
rs9268832 | 0.882 | 0.160 | 6 | 32460012 | non coding transcript exon variant | T/C | snv | 0.61 | 0.59 | 4 | |
rs660550 | 0.882 | 0.160 | 6 | 31869500 | intron variant | C/A;G | snv | 0.60 | 3 | ||
rs2242665 | 0.882 | 0.160 | 6 | 31871532 | missense variant | C/T | snv | 0.60 | 0.60 | 3 | |
rs644827 | 0.882 | 0.160 | 6 | 31870664 | missense variant | T/C | snv | 0.60 | 0.60 | 3 | |
rs185819 | 0.851 | 0.200 | 6 | 32082290 | missense variant | T/A;C;G | snv | 8.2E-06; 0.58; 4.1E-06 | 10 | ||
rs2277798 | 0.925 | 0.120 | 21 | 42403997 | missense variant | A/G | snv | 0.55 | 0.60 | 3 | |
rs509749 | 0.925 | 0.120 | 1 | 160823770 | missense variant | A/G | snv | 0.54 | 0.55 | 2 | |
rs1884444 | 0.637 | 0.600 | 1 | 67168129 | missense variant | G/T | snv | 0.52 | 0.51 | 34 |