Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs56144125 | 0.827 | 0.240 | 11 | 6617154 | splice acceptor variant | C/A;G;T | snv | 4.0E-04; 1.2E-05 | 6 | ||
rs869312702 | 0.827 | 0.160 | 9 | 128203609 | missense variant | G/A | snv | 10 | |||
rs878853161 | 0.851 | 0.240 | 1 | 42929977 | frameshift variant | AT/- | del | 7 | |||
rs1060499626 | 0.882 | 0.160 | 10 | 180034 | stop gained | C/T | snv | 6 | |||
rs121908216 | 0.882 | 0.200 | 19 | 13235702 | missense variant | C/T | snv | 7 | |||
rs145465528 | 0.882 | 0.240 | 6 | 129143976 | missense variant | C/T | snv | 6.0E-05 | 9.1E-05 | 7 | |
rs794726710 | 0.882 | 0.160 | 2 | 166013812 | stop gained | G/A | snv | 4 | |||
rs869312663 | 0.882 | 0.200 | 2 | 165381114 | missense variant | A/G | snv | 5 | |||
rs869312671 | 0.882 | 0.160 | 1 | 11144735 | missense variant | C/T | snv | 5 | |||
rs869312696 | 0.882 | 0.160 | 18 | 33739086 | stop gained | C/A | snv | 5 | |||
rs1553546045 | 0.925 | 0.200 | 2 | 208442425 | missense variant | C/T | snv | 5 | |||
rs534517447 | 0.925 | 0.160 | 11 | 120956935 | missense variant | G/A | snv | 2.9E-05 | 7.0E-06 | 4 | |
rs794727870 | 0.925 | 0.160 | 1 | 42929244 | missense variant | G/A;T | snv | 3 | |||
rs796053439 | 0.925 | 0.240 | 11 | 6616714 | missense variant | T/C;G | snv | 4.0E-06; 4.0E-06 | 4 | ||
rs869312666 | 0.925 | 0.160 | 1 | 11129789 | missense variant | A/C | snv | 4 | |||
rs869312670 | 0.925 | 0.160 | 2 | 166013745 | frameshift variant | A/- | del | 3 | |||
rs869312677 | 0.925 | 0.160 | 6 | 33446780 | frameshift variant | TTGGCAG/- | del | 4 | |||
rs869312698 | 0.925 | 0.160 | 5 | 88804785 | missense variant | C/T | snv | 5 | |||
rs869312699 | 0.925 | 0.160 | 11 | 120986102 | protein altering variant | CTGGCGCAGGAGGCC/GCT | delins | 4 | |||
rs875989830 | 0.925 | 0.200 | 2 | 199348742 | frameshift variant | AC/- | delins | 4 | |||
rs869312667 | 1.000 | 0.160 | 13 | 35157262 | missense variant | C/T | snv | 2 | |||
rs878853164 | 1.000 | 0.160 | 11 | 68157849 | stop gained | C/A | snv | 4.0E-06 | 5 | ||
rs878853169 | 1.000 | 0.160 | 13 | 35550528 | stop gained | C/T | snv | 4 |