Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs699 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 134 | |
rs4762 | 0.637 | 0.440 | 1 | 230710231 | missense variant | G/A | snv | 0.12 | 0.11 | 35 | |
rs12075 | 0.724 | 0.240 | 1 | 159205564 | missense variant | G/A | snv | 0.51 | 0.66 | 22 | |
rs4656942 | 0.851 | 0.160 | 1 | 160861258 | intron variant | G/A;C;T | snv | 4 | |||
rs485618 | 0.851 | 0.160 | 1 | 160830690 | 3 prime UTR variant | T/A;C;G | snv | 0.54 | 4 | ||
rs56073403 | 0.882 | 0.160 | 1 | 230710009 | missense variant | T/C | snv | 7.2E-04 | 6.8E-04 | 3 | |
rs4646038 | 0.925 | 0.080 | 1 | 15506705 | intron variant | C/T | snv | 7.0E-06 | 2 | ||
rs2292832 | 0.605 | 0.640 | 2 | 240456086 | non coding transcript exon variant | T/A;C | snv | 0.59 | 46 | ||
rs2241880 | 0.627 | 0.600 | 2 | 233274722 | missense variant | A/G | snv | 0.45 | 0.44 | 37 | |
rs6721961 | 0.672 | 0.520 | 2 | 177265309 | intron variant | T/C;G | snv | 0.89 | 24 | ||
rs10204525 | 0.701 | 0.440 | 2 | 241850169 | 3 prime UTR variant | C/T | snv | 0.21 | 20 | ||
rs2287622 | 0.724 | 0.240 | 2 | 168973818 | missense variant | A/C;G;T | snv | 0.57 | 16 | ||
rs1682111 | 0.742 | 0.240 | 2 | 54200842 | intron variant | A/T | snv | 0.56 | 13 | ||
rs4374383 | 0.776 | 0.200 | 2 | 112013193 | intron variant | A/G | snv | 0.58 | 10 | ||
rs843720 | 0.752 | 0.280 | 2 | 54283523 | intron variant | T/G | snv | 0.52 | 10 | ||
rs2234671 | 0.807 | 0.240 | 2 | 218164385 | missense variant | C/G | snv | 9.1E-02 | 0.11 | 7 | |
rs843645 | 0.827 | 0.120 | 2 | 54247527 | intron variant | T/A;G | snv | 0.19 | 5 | ||
rs16851720 | 0.827 | 0.120 | 3 | 141744456 | intron variant | A/C | snv | 0.21 | 5 | ||
rs4444903 | 0.630 | 0.360 | 4 | 109912954 | 5 prime UTR variant | A/G | snv | 0.51 | 35 | ||
rs72613567 | 0.742 | 0.320 | 4 | 87310240 | splice donor variant | -/A | delins | 0.22 | 14 | ||
rs6834314 | 0.807 | 0.160 | 4 | 87292656 | intergenic variant | A/G | snv | 0.24 | 10 | ||
rs7664413 | 0.851 | 0.160 | 4 | 176687553 | intron variant | C/T | snv | 0.24 | 0.25 | 7 | |
rs4074 | 0.827 | 0.200 | 4 | 73870427 | intron variant | A/G | snv | 0.46 | 6 | ||
rs5743314 | 0.851 | 0.160 | 4 | 186079221 | intron variant | G/C;T | snv | 5 | |||
rs10433937 | 0.882 | 0.080 | 4 | 87308948 | intron variant | T/A;C;G | snv | 4 |