Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1555206402 | 0.790 | 0.320 | 11 | 119093274 | stop lost | GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- | delins | 26 | |||
rs1567053134 | 0.925 | 0.040 | 15 | 74345160 | frameshift variant | AG/- | del | 8 | |||
rs1049305 | 0.925 | 0.160 | 7 | 30924207 | 3 prime UTR variant | G/C | snv | 0.52 | 4 | ||
rs151264360 | 0.925 | 0.040 | 18 | 673444 | 3 prime UTR variant | AAGTTA/-;AAGTTAAAGTTA | delins | 3 | |||
rs467323 | 12 | 49955982 | 3 prime UTR variant | C/G;T | snv | 2 | |||||
rs13181 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 134 | ||
rs775067652 | 15 | 63345543 | missense variant | G/T | snv | 4.0E-06 | 2 | ||||
rs778022582 | 0.925 | 0.080 | 3 | 42688963 | missense variant | A/C;G | snv | 9.5E-05; 1.2E-05 | 4 | ||
rs761389904 | 20 | 13816520 | missense variant | T/G | snv | 5.6E-05 | 2.1E-05 | 1 | |||
rs3742030 | 0.925 | 0.080 | 12 | 109814742 | missense variant | G/A;C | snv | 3.7E-02 | 4 | ||
rs3741559 | 1.000 | 0.160 | 12 | 49951193 | splice region variant | G/A | snv | 0.20 | 0.17 | 3 |