Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs879254933 | 0.882 | 0.160 | 19 | 11113708 | frameshift variant | -/A | delins | 4 | |||
rs906600204 | 1.000 | 0.080 | 17 | 75569087 | frameshift variant | -/ACTT | delins | 1 | |||
rs3025058 | 0.658 | 0.600 | 11 | 102845217 | upstream gene variant | -/C;G | ins | 2.8E-04 | 26 | ||
rs1555808111 | 0.925 | 0.160 | 19 | 11123284 | frameshift variant | -/GCTG | delins | 3 | |||
rs3783553 | 0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins | 26 | |||
rs1799752 | 0.677 | 0.480 | 17 | 63488529 | intron variant | -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | delins | 25 | |||
rs34234989 | 0.882 | 0.120 | 20 | 35186731 | intron variant | A/- | delins | 0.40 | 5 | ||
rs5186 | 0.630 | 0.560 | 3 | 148742201 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 | 38 | |
rs3134069 | 0.776 | 0.320 | 8 | 118952749 | upstream gene variant | A/C | snv | 9.6E-02 | 11 | ||
rs2650000 | 0.851 | 0.200 | 12 | 120951159 | intron variant | A/C | snv | 0.70 | 10 | ||
rs7248488 | 0.851 | 0.160 | 19 | 22005907 | intron variant | A/C | snv | 0.59 | 5 | ||
rs1524668 | 0.851 | 0.160 | 2 | 9557243 | upstream gene variant | A/C | snv | 0.64 | 4 | ||
rs1648707 | 0.925 | 0.080 | 3 | 186833922 | intergenic variant | A/C | snv | 0.43 | 3 | ||
rs1711972 | 0.925 | 0.160 | 6 | 1388953 | upstream gene variant | A/C | snv | 4.7E-02 | 3 | ||
rs3818416 | 1.000 | 0.080 | 13 | 77900333 | intron variant | A/C | snv | 0.75 | 3 | ||
rs9515201 | 0.925 | 0.080 | 13 | 110388451 | intron variant | A/C | snv | 0.63 | 3 | ||
rs17110453 | 0.925 | 0.080 | 10 | 95069772 | upstream gene variant | A/C | snv | 0.11 | 2 | ||
rs3093105 | 0.925 | 0.080 | 19 | 15897578 | missense variant | A/C | snv | 0.16 | 0.18 | 2 | |
rs6690733 | 1.000 | 0.080 | 1 | 62594640 | intron variant | A/C | snv | 0.43 | 2 | ||
rs783396 | 1.000 | 0.080 | 6 | 106539495 | missense variant | A/C | snv | 0.93 | 0.93 | 2 | |
rs11498973 | 1.000 | 0.080 | 10 | 84732025 | intergenic variant | A/C | snv | 0.19 | 1 | ||
rs2230501 | 1.000 | 0.080 | 14 | 61457523 | synonymous variant | A/C | snv | 3.1E-02 | 1.6E-02 | 1 | |
rs6577555 | 1.000 | 0.080 | 1 | 9152228 | intron variant | A/C | snv | 0.74 | 1 | ||
rs7202008 | 1.000 | 0.080 | 16 | 84985897 | intron variant | A/C | snv | 1.2E-02 | 1 | ||
rs2943634 | 0.763 | 0.200 | 2 | 226203364 | intergenic variant | A/C;G | snv | 15 |