Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121909219 | 0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv | 25 | |||
rs3742330 | 0.662 | 0.640 | 14 | 95087025 | 3 prime UTR variant | A/G | snv | 8.7E-02 | 24 | ||
rs1057520001 | 0.677 | 0.360 | 17 | 7674886 | missense variant | A/C;G | snv | 23 | |||
rs11542041 | 0.677 | 0.480 | 19 | 44908690 | missense variant | C/A;T | snv | 2.1E-05 | 23 | ||
rs2046210 | 0.708 | 0.280 | 6 | 151627231 | intergenic variant | G/A | snv | 0.41 | 21 | ||
rs887829 | 0.763 | 0.280 | 2 | 233759924 | intron variant | C/T | snv | 0.36 | 18 | ||
rs121913478 | 0.708 | 0.640 | 10 | 121515280 | missense variant | T/C | snv | 17 | |||
rs1219648 | 0.716 | 0.320 | 10 | 121586676 | intron variant | A/G;T | snv | 17 | |||
rs1271572 | 0.708 | 0.400 | 14 | 64295199 | intron variant | A/C;T | snv | 16 | |||
rs8175347 | 0.708 | 0.400 | 2 | 233760234 | intron variant | TATA/-;TA;TATATA;TATATATA;TATATATATA;TATATATATATA | delins | 16 | |||
rs1801320 | 0.742 | 0.160 | 15 | 40695330 | 5 prime UTR variant | G/C | snv | 0.12 | 15 | ||
rs2302254 | 0.752 | 0.240 | 17 | 51153539 | 5 prime UTR variant | C/T | snv | 0.22 | 15 | ||
rs34330 | 0.724 | 0.280 | 12 | 12717761 | 5 prime UTR variant | T/C | snv | 0.70 | 15 | ||
rs10895068 | 0.752 | 0.240 | 11 | 101129483 | 5 prime UTR variant | C/T | snv | 3.6E-02 | 14 | ||
rs4430796 | 0.790 | 0.280 | 17 | 37738049 | intron variant | A/G | snv | 0.52 | 14 | ||
rs587776667 | 0.742 | 0.280 | 10 | 87931090 | splice donor variant | G/A;C;T | snv | 14 | |||
rs889312 | 0.732 | 0.360 | 5 | 56736057 | regulatory region variant | C/A | snv | 0.69 | 14 | ||
rs2072472 | 0.732 | 0.200 | 2 | 102026557 | intron variant | A/G | snv | 0.24 | 13 | ||
rs1057519945 | 0.776 | 0.200 | 12 | 132673703 | missense variant | C/A;T | snv | 12 | |||
rs12970291 | 0.763 | 0.120 | 18 | 75305279 | intergenic variant | G/A | snv | 2.8E-02 | 12 | ||
rs16949649 | 0.776 | 0.200 | 17 | 51152947 | upstream gene variant | T/C | snv | 0.39 | 12 | ||
rs7501939 | 0.776 | 0.280 | 17 | 37741165 | intron variant | C/T | snv | 0.41 | 12 | ||
rs2699887 | 0.763 | 0.280 | 3 | 179148620 | intron variant | C/T | snv | 0.18 | 11 | ||
rs587776650 | 0.790 | 0.280 | 8 | 89971214 | frameshift variant | GTTTT/- | delins | 2.0E-04 | 11 | ||
rs3020449 | 0.807 | 0.200 | 14 | 64306674 | intron variant | A/G;T | snv | 10 |