Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs17366568 | 0.851 | 0.200 | 3 | 186852664 | non coding transcript exon variant | G/A | snv | 8.8E-02 | 1 | ||
rs182052 | 0.701 | 0.440 | 3 | 186842993 | intron variant | G/A | snv | 0.38 | 1 | ||
rs137852578 | 0.827 | 0.080 | X | 67723710 | missense variant | A/G | snv | 2 | |||
rs137852581 | 0.882 | 0.080 | X | 67723701 | missense variant | C/T | snv | 2 | |||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 22 | ||
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 2 | |||
rs28909982 | 0.925 | 0.080 | 22 | 28725338 | missense variant | T/C | snv | 1.2E-04 | 9.1E-05 | 2 | |
rs786202601 | 1.000 | 0.120 | 22 | 28694059 | frameshift variant | T/- | delins | 2 | |||
rs121913430 | 1.000 | 0.080 | 7 | 55174740 | missense variant | G/A | snv | 2 | |||
rs138213197 | 0.701 | 0.240 | 17 | 48728343 | missense variant | C/T | snv | 1.8E-03 | 1.6E-03 | 8 | |
rs1512268 | 0.851 | 0.160 | 8 | 23668950 | intergenic variant | T/C | snv | 0.50 | 3 | ||
rs1057519912 | 0.776 | 0.200 | X | 71129408 | missense variant | C/G;T | snv | 5 | |||
rs339331 | 0.882 | 0.080 | 6 | 116888889 | intron variant | T/C | snv | 0.28 | 2 | ||
rs486907 | 0.667 | 0.360 | 1 | 182585422 | missense variant | C/T | snv | 0.31 | 0.28 | 1 | |
rs1057519971 | 1.000 | 0.080 | 17 | 49619326 | missense variant | T/C;G | snv | 1 |