Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057519695 | 0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv | 35 | |||
rs1057519834 | 0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv | 31 | |||
rs587776834 | 1.000 | 0.120 | 13 | 28034140 | inframe deletion | TCA/- | delins | 1 | |||
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs1801131 | 0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 | 93 | |
rs7089424 | 0.752 | 0.200 | 10 | 61992400 | intron variant | T/G | snv | 0.32 | 10 | ||
rs4132601 | 0.763 | 0.240 | 7 | 50402906 | 3 prime UTR variant | T/G | snv | 0.25 | 9 | ||
rs61754966 | 0.701 | 0.280 | 8 | 89978293 | missense variant | T/C;G | snv | 1.2E-03 | 23 | ||
rs1142345 | 0.776 | 0.280 | 6 | 18130687 | missense variant | T/C;G | snv | 3.7E-02 | 9 | ||
rs6479778 | 0.827 | 0.200 | 10 | 61929318 | intron variant | T/C;G | snv | 5 | |||
rs140422742 | 0.882 | 0.120 | 7 | 99778046 | missense variant | T/C;G | snv | 7.6E-05 | 6.3E-05 | 3 | |
rs25487 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 205 | |
rs4938723 | 0.574 | 0.680 | 11 | 111511840 | intron variant | T/C | snv | 0.32 | 60 | ||
rs153109 | 0.623 | 0.600 | 16 | 28507775 | intron variant | T/C | snv | 0.43 | 37 | ||
rs564398 | 0.716 | 0.360 | 9 | 22029548 | 3 prime UTR variant | T/C | snv | 0.31 | 0.28 | 18 | |
rs16754 | 0.732 | 0.240 | 11 | 32396399 | synonymous variant | T/C | snv | 0.24; 4.0E-06 | 0.17 | 15 | |
rs861530 | 0.732 | 0.320 | 14 | 103707786 | 3 prime UTR variant | T/C | snv | 0.65 | 13 | ||
rs2536 | 0.776 | 0.240 | 1 | 11106656 | 3 prime UTR variant | T/C | snv | 5.8E-02 | 11 | ||
rs10828317 | 0.776 | 0.280 | 10 | 22550699 | missense variant | T/C | snv | 9 | |||
rs869312821 | 0.882 | 0.120 | 1 | 1806515 | missense variant | T/C | snv | 7 | |||
rs210143 | 0.827 | 0.160 | 6 | 33579153 | intron variant | T/C | snv | 0.74 | 6 | ||
rs11099592 | 0.851 | 0.160 | 4 | 83309466 | missense variant | T/C | snv | 0.78 | 0.80 | 5 | |
rs2036914 | 0.882 | 0.160 | 4 | 186271327 | intron variant | T/C | snv | 0.57 | 5 | ||
rs10106 | 0.851 | 0.200 | 9 | 127813796 | 3 prime UTR variant | T/C | snv | 0.45 | 4 | ||
rs10272724 | 0.882 | 0.200 | 7 | 50409515 | downstream gene variant | T/C | snv | 0.24 | 4 |