Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs1805087 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 135 | |
rs1137101 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 77 | |
rs4994 | 0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 | 65 | |
rs11615 | 0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 | 62 | |
rs268 | 0.637 | 0.480 | 8 | 19956018 | missense variant | A/G | snv | 1.3E-02 | 1.3E-02 | 41 | |
rs10455872 | 0.662 | 0.320 | 6 | 160589086 | intron variant | A/G | snv | 4.3E-02 | 33 | ||
rs3803662 | 0.662 | 0.440 | 16 | 52552429 | non coding transcript exon variant | A/G | snv | 0.63 | 25 | ||
rs9349379 | 0.732 | 0.200 | 6 | 12903725 | intron variant | A/G | snv | 0.32 | 19 | ||
rs13281615 | 0.716 | 0.360 | 8 | 127343372 | intron variant | A/G | snv | 0.43 | 18 | ||
rs1256046734 | 0.763 | 0.280 | 1 | 65621409 | missense variant | A/G | snv | 7.0E-06 | 12 | ||
rs198389 | 0.776 | 0.240 | 1 | 11859214 | upstream gene variant | A/G | snv | 0.39 | 10 | ||
rs200960801 | 0.827 | 0.200 | 6 | 151944488 | missense variant | A/G | snv | 4.0E-06 | 6 | ||
rs4757268 | 0.827 | 0.120 | 11 | 14789216 | synonymous variant | A/G | snv | 0.63 | 0.64 | 6 | |
rs7744 | 0.827 | 0.160 | 3 | 38142530 | 3 prime UTR variant | A/G | snv | 0.13 | 5 | ||
rs879254840 | 0.827 | 0.120 | 19 | 11113322 | missense variant | A/G | snv | 5 | |||
rs1941404 | 0.882 | 0.120 | 11 | 114298316 | non coding transcript exon variant | A/G | snv | 0.59 | 3 | ||
rs632793 | 0.882 | 0.120 | 1 | 11850620 | upstream gene variant | A/G | snv | 0.45 | 3 | ||
rs1444332461 | 1.000 | 0.040 | 22 | 50627185 | missense variant | A/G | snv | 4.1E-06 | 1 | ||
rs2306283 | 0.742 | 0.320 | 12 | 21176804 | missense variant | A/G;T | snv | 0.47 | 16 | ||
rs4713518 | 0.925 | 0.160 | 6 | 32289560 | intron variant | A/G;T | snv | 3 | |||
rs2071410 | 0.882 | 0.160 | 15 | 90877710 | intron variant | C/A;G;T | snv | 7 | |||
rs11542041 | 0.677 | 0.480 | 19 | 44908690 | missense variant | C/A;T | snv | 2.1E-05 | 23 | ||
rs3829462 | 1.000 | 0.040 | 15 | 58560880 | missense variant | C/A;T | snv | 0.97 | 1 | ||
rs1801282 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 131 |