Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2228570 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 99 | ||
rs201217593 | 0.790 | 0.200 | X | 31177947 | stop gained | C/T | snv | 2.2E-05 | 2.9E-05 | 8 | |
rs748537564 | 0.882 | 0.160 | 7 | 143345595 | missense variant | C/A;T | snv | 9.5E-05 | 3 | ||
rs104894787 | 0.882 | 0.160 | X | 31178784 | stop gained | G/A | snv | 3 | |||
rs128627256 | 0.882 | 0.160 | X | 31478330 | stop gained | G/A | snv | 3 | |||
rs373286166 | 0.882 | 0.160 | X | 32573529 | splice donor variant | C/T | snv | 1.6E-05 | 2.8E-05 | 3 | |
rs398122853 | 0.882 | 0.160 | X | 33211304 | stop gained | C/T | snv | 3 | |||
rs398123832 | 0.882 | 0.160 | X | 31178721 | stop gained | G/A | snv | 3 | |||
rs398123909 | 0.882 | 0.160 | X | 32472310 | splice acceptor variant | C/A;T | snv | 3 | |||
rs398123929 | 0.882 | 0.160 | X | 32468509 | stop gained | G/A | snv | 3 | |||
rs398123935 | 0.882 | 0.160 | X | 32463576 | stop gained | G/A | snv | 3 | |||
rs794726993 | 0.882 | 0.160 | X | 32645020 | stop gained | G/A;C | snv | 3 | |||
rs1800309 | 0.882 | 0.160 | 17 | 80113242 | missense variant | G/A;C | snv | 5.6E-02; 4.4E-06 | 3 | ||
rs16863247 | 0.925 | 0.160 | 1 | 162535706 | regulatory region variant | A/G | snv | 4.8E-02 | 2 | ||
rs1556880354 | 0.925 | 0.120 | X | 31774193 | splice acceptor variant | C/T | snv | 2 | |||
rs1557047827 | 0.925 | 0.120 | X | 32809512 | frameshift variant | C/- | del | 2 | |||
rs1557380616 | 0.925 | 0.120 | X | 32485053 | stop gained | A/T | snv | 2 | |||
rs182575709 | 0.925 | 0.120 | X | 32461403 | intron variant | T/C;G | snv | 5.7E-03 | 2 | ||
rs398124105 | 0.925 | 0.120 | X | 31182849 | frameshift variant | CATCCAGTCT/- | delins | 2 | |||
rs5030730 | 0.925 | 0.160 | X | 32438372 | stop gained | G/A | snv | 2 | |||
rs587776747 | 0.925 | 0.160 | X | 31261301 | non coding transcript exon variant | T/C | snv | 2 | |||
rs779739455 | 0.925 | 0.120 | X | 31968451 | splice acceptor variant | C/A;G | snv | 5.5E-06 | 2 | ||
rs886042840 | 0.925 | 0.120 | X | 31178789 | inframe deletion | TCT/- | delins | 2 | |||
rs886043375 | 0.925 | 0.120 | X | 31169543 | frameshift variant | G/-;GG | delins | 2 | |||
rs1280415176 | 1.000 | 0.120 | X | 32645113 | missense variant | A/T | snv | 1.1E-05 | 1 |