Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1143623 | 0.677 | 0.440 | 2 | 112838252 | upstream gene variant | C/G | snv | 0.24 | 29 | ||
rs13428812 | 0.827 | 0.120 | 2 | 25269598 | intron variant | A/G | snv | 0.31 | 9 | ||
rs1550117 | 0.790 | 0.320 | 2 | 25343038 | upstream gene variant | A/G;T | snv | 11 | |||
rs2292832 | 0.605 | 0.640 | 2 | 240456086 | non coding transcript exon variant | T/A;C | snv | 0.59 | 46 | ||
rs3783553 | 0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins | 26 | |||
rs3834129 | 0.627 | 0.560 | 2 | 201232809 | upstream gene variant | AGTAAG/- | del | 0.48 | 38 | ||
rs551060742 | 0.827 | 0.120 | 2 | 47482929 | stop gained | C/T | snv | 8.4E-05 | 1.0E-04 | 7 | |
rs5742909 | 0.614 | 0.680 | 2 | 203867624 | upstream gene variant | C/T | snv | 6.7E-02 | 40 | ||
rs6733868 | 0.851 | 0.120 | 2 | 25276998 | intron variant | C/G | snv | 0.50 | 6 | ||
rs763059810 | 0.623 | 0.600 | 2 | 136115750 | missense variant | T/C | snv | 4.0E-06 | 41 | ||
rs779315943 | 0.882 | 0.160 | 2 | 25247708 | frameshift variant | TTTCC/- | del | 5 | |||
rs1050450 | 0.623 | 0.600 | 3 | 49357401 | missense variant | G/A | snv | 0.28 | 0.30 | 43 | |
rs1052133 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 147 | |
rs1799864 | 0.572 | 0.680 | 3 | 46357717 | missense variant | G/A | snv | 0.13 | 0.12 | 68 | |
rs1800734 | 0.653 | 0.400 | 3 | 36993455 | 5 prime UTR variant | G/A | snv | 0.22 | 30 | ||
rs1801282 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 131 | |
rs1805192 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 121 | |||
rs2228000 | 0.585 | 0.560 | 3 | 14158387 | missense variant | G/A | snv | 0.24 | 0.21 | 53 | |
rs2293303 | 0.827 | 0.200 | 3 | 41239336 | synonymous variant | C/T | snv | 3.2E-02 | 1.2E-02 | 7 | |
rs2607775 | 0.807 | 0.160 | 3 | 14178595 | 5 prime UTR variant | C/G | snv | 0.42 | 0.43 | 8 | |
rs266729 | 0.637 | 0.560 | 3 | 186841685 | upstream gene variant | C/A;G;T | snv | 37 | |||
rs4135385 | 0.742 | 0.320 | 3 | 41237949 | non coding transcript exon variant | A/G | snv | 0.19 | 14 | ||
rs56250509 | 0.790 | 0.160 | 3 | 37014530 | missense variant | T/C | snv | 2.0E-05 | 10 | ||
rs746702110 | 0.627 | 0.480 | 3 | 9756778 | missense variant | C/T | snv | 1.2E-05 | 2.8E-05 | 38 | |
rs822395 | 0.776 | 0.240 | 3 | 186849018 | intron variant | C/A;G | snv | 10 |