Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1267969615 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 100 | ||
rs2074192 | 0.827 | 0.160 | X | 15564667 | intron variant | C/T | snv | 0.40 | 9 | ||
rs4961 | 0.683 | 0.400 | 4 | 2904980 | missense variant | G/A;T | snv | 1.2E-05; 0.20 | 27 | ||
rs699 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 134 | |
rs1177506410 | 0.776 | 0.240 | 1 | 230706148 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 | 12 | |
rs1275805226 | 0.776 | 0.240 | 1 | 230706148 | frameshift variant | G/- | del | 7.0E-06 | 12 | ||
rs12710567 | X | 116170599 | upstream gene variant | T/C | snv | 3.2E-02 | 1 | ||||
rs6471 | 0.683 | 0.360 | 6 | 32040110 | missense variant | G/A;C;T | snv | 1.2E-05; 5.3E-03 | 24 | ||
rs2740574 | 0.807 | 0.360 | 7 | 99784473 | upstream gene variant | C/T | snv | 0.78 | 12 | ||
rs776746 | 0.724 | 0.400 | 7 | 99672916 | splice acceptor variant | T/C | snv | 0.72 | 21 | ||
rs2881766 | 0.882 | 0.120 | 6 | 151797984 | intron variant | T/G | snv | 0.35 | 5 | ||
rs1643821 | 6 | 151862416 | intron variant | G/A | snv | 0.46 | 2 | ||||
rs988328 | 6 | 151920015 | intron variant | T/C | snv | 0.15 | 1 | ||||
rs142724505 | 1.000 | 0.080 | 8 | 144080528 | missense variant | G/A | snv | 1.8E-03 | 1.7E-03 | 2 | |
rs1188383936 | 0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 | 102 | ||
rs9939609 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 98 | ||
rs3957357 | 0.807 | 0.280 | 6 | 52803889 | upstream gene variant | A/G | snv | 0.63 | 7 | ||
rs1695 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 188 | |
rs2235543 | 0.925 | 0.080 | 1 | 209687323 | intron variant | T/A;C | snv | 4 | |||
rs846910 | 0.882 | 0.160 | 1 | 209701909 | intron variant | A/G | snv | 0.95 | 6 | ||
rs2016347 | 0.790 | 0.160 | 15 | 98960571 | 3 prime UTR variant | G/A;T | snv | 9 | |||
rs1137101 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 77 | |
rs757574299 | 1.000 | 0.080 | 1 | 65570511 | missense variant | C/G | snv | 1.6E-05 | 1.4E-05 | 2 | |
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
rs3918242 | 0.602 | 0.680 | 20 | 46007337 | upstream gene variant | C/T | snv | 0.14 | 54 |