Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057519695 | 0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv | 35 | |||
rs560890523 | 1.000 | 0.080 | 12 | 25205729 | 3 prime UTR variant | TT/-;T | delins | 3 | |||
rs57698689 | 1.000 | 0.080 | 12 | 25205729 | 3 prime UTR variant | TT/-;T | delins | 0.48 | 2 | ||
rs1057519848 | 0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv | 72 | |||
rs1057519834 | 0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv | 31 | |||
rs750802459 | 1.000 | 0.120 | 4 | 184635342 | frameshift variant | TCAGGATAATCCATTTTATAACTGTTGTCCAGGGATATTCCAGAGTC/- | delins | 5.6E-05 | 2 | ||
rs868257011 | 0.925 | 0.080 | 10 | 87961042 | frameshift variant | TACTT/- | del | 4 | |||
rs1801131 | 0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 | 93 | |
rs2279744 | 0.605 | 0.640 | 12 | 68808800 | intron variant | T/G | snv | 0.31 | 48 | ||
rs3021094 | 0.827 | 0.360 | 1 | 206771607 | intron variant | T/G | snv | 8.0E-02 | 8 | ||
rs752366963 | 1.000 | 20 | 18548646 | missense variant | T/G | snv | 8.0E-06 | 7.0E-06 | 2 | ||
rs763780 | 0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 | 87 | |
rs3798577 | 0.742 | 0.320 | 6 | 152099995 | 3 prime UTR variant | T/C | snv | 0.45 | 16 | ||
rs1478604 | 0.807 | 0.240 | 15 | 39581120 | 5 prime UTR variant | T/C | snv | 0.40 | 9 | ||
rs11099592 | 0.851 | 0.160 | 4 | 83309466 | missense variant | T/C | snv | 0.78 | 0.80 | 5 | |
rs1341667 | 0.925 | 0.040 | 10 | 68882104 | missense variant | T/C | snv | 0.62 | 0.57 | 4 | |
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
rs13181 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 134 | ||
rs121434568 | 0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv | 73 | |||
rs1646724 | 0.925 | 0.080 | 7 | 134317123 | upstream gene variant | T/A;G | snv | 3 | |||
rs11554290 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 59 | |||
rs895819 | 0.623 | 0.560 | 19 | 13836478 | non coding transcript exon variant | T/A;C;G | snv | 0.34 | 0.38 | 46 | |
rs75076352 | 0.689 | 0.240 | 10 | 43114500 | missense variant | T/A;C;G | snv | 1.2E-05 | 24 | ||
rs3917412 | 1.000 | 0.040 | 1 | 169731361 | intron variant | T/A;C;G | snv | 4 | |||
rs4939827 | 0.708 | 0.160 | 18 | 48927093 | intron variant | T/A;C | snv | 25 |