Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs861539 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 104 | |
rs4946728 | 1.000 | 0.120 | 6 | 106142488 | intron variant | A/C | snv | 0.72 | 3 | ||
rs1040411 | 1.000 | 0.120 | 6 | 106150148 | intron variant | G/A | snv | 0.47 | 3 | ||
rs2230774 | 0.807 | 0.240 | 2 | 11218994 | missense variant | G/C;T | snv | 0.49 | 12 | ||
rs121918461 | 0.827 | 0.240 | 12 | 112450362 | missense variant | A/C;G;T | snv | 12 | |||
rs1057519695 | 0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv | 35 | |||
rs11554290 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 59 | |||
rs1057519834 | 0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv | 31 | |||
rs1057519824 | 0.807 | 0.120 | 7 | 116783374 | missense variant | T/G | snv | 10 | |||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs1458974438 | 0.807 | 0.080 | 19 | 1206957 | missense variant | G/A | snv | 9 | |||
rs200081710 | 1.000 | 0.120 | 4 | 121154648 | missense variant | T/C | snv | 7.0E-06 | 3 | ||
rs115160714 | 0.807 | 0.200 | 3 | 133601021 | 3 prime UTR variant | G/A | snv | 5.8E-03 | 9 | ||
rs77191406 | 0.790 | 0.280 | 6 | 137881704 | 3 prime UTR variant | C/T | snv | 7.2E-04 | 12 | ||
rs895819 | 0.623 | 0.560 | 19 | 13836478 | non coding transcript exon variant | T/A;C;G | snv | 0.34 | 0.38 | 46 | |
rs752021744 | 0.689 | 0.440 | 3 | 138759306 | missense variant | T/C | snv | 1.2E-05 | 29 | ||
rs121913364 | 0.641 | 0.520 | 7 | 140753334 | missense variant | T/C;G | snv | 4.0E-06 | 34 | ||
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs121913227 | 0.653 | 0.320 | 7 | 140753336 | missense variant | AC/CT;TT | mnv | 31 | |||
rs121913366 | 0.763 | 0.400 | 7 | 140753345 | missense variant | A/C;T | snv | 12 | |||
rs60745952 | 0.925 | 0.080 | 4 | 148827842 | intron variant | T/C | snv | 0.13 | 6 | ||
rs1800947 | 0.683 | 0.440 | 1 | 159713648 | splice region variant | C/A;G;T | snv | 4.4E-05; 5.1E-02; 4.0E-06 | 28 | ||
rs7758229 | 0.732 | 0.120 | 6 | 160419220 | intron variant | G/A;T | snv | 16 | |||
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 |