Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs758653954 | 0.925 | 0.120 | 14 | 23357350 | frameshift variant | -/C | delins | 4.0E-06; 8.0E-06 | 2 | ||
rs6457327 | 0.790 | 0.320 | 6 | 31106253 | downstream gene variant | A/C | snv | 0.66 | 7 | ||
rs9831894 | 0.882 | 0.120 | 3 | 122081640 | intron variant | A/C | snv | 0.31 | 3 | ||
rs7765004 | 0.925 | 0.120 | 6 | 113750518 | regulatory region variant | A/C | snv | 0.32 | 2 | ||
rs587781386 | 0.882 | 0.120 | 17 | 7674889 | missense variant | A/C;G | snv | 3.2E-05; 4.0E-06 | 3 | ||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs1805010 | 0.752 | 0.400 | 16 | 27344882 | missense variant | A/C;G;T | snv | 0.45 | 12 | ||
rs2032582 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 97 | ||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs1800871 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 108 | ||
rs1128503 | 0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 | 64 | |
rs1800797 | 0.605 | 0.800 | 7 | 22726602 | non coding transcript exon variant | A/G | snv | 0.72 | 43 | ||
rs879253942 | 0.677 | 0.400 | 17 | 7673826 | missense variant | A/G | snv | 28 | |||
rs172378 | 0.790 | 0.240 | 1 | 22638945 | synonymous variant | A/G | snv | 0.49 | 0.51 | 11 | |
rs20551 | 0.752 | 0.320 | 22 | 41152004 | missense variant | A/G | snv | 0.31 | 0.23 | 10 | |
rs3957357 | 0.807 | 0.280 | 6 | 52803889 | upstream gene variant | A/G | snv | 0.63 | 7 | ||
rs1164376164 | 0.851 | 0.200 | 7 | 87601024 | 5 prime UTR variant | A/G | snv | 6 | |||
rs2844484 | 0.807 | 0.320 | 6 | 31568447 | upstream gene variant | A/G | snv | 0.64 | 6 | ||
rs1178732315 | 0.882 | 0.240 | 1 | 155236381 | missense variant | A/G | snv | 1.4E-05 | 3 | ||
rs8094402 | 0.882 | 0.120 | 18 | 76995493 | intron variant | A/G | snv | 0.25 | 3 | ||
rs111724149 | 0.925 | 0.120 | 11 | 45204720 | missense variant | A/G | snv | 1.8E-03 | 1.8E-03 | 2 | |
rs4733601 | 1.000 | 0.120 | 8 | 128257220 | TF binding site variant | A/G | snv | 0.41 | 1 | ||
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs2234922 | 0.630 | 0.440 | 1 | 225838705 | missense variant | A/G;T | snv | 0.19; 2.8E-05 | 42 | ||
rs909253 | 0.641 | 0.600 | 6 | 31572536 | intron variant | A/G;T | snv | 34 |