Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs3838646 | 0.827 | 0.320 | Y | 18991182 | intron variant | CA/- | del | 8 | |||
rs52812045 | 0.851 | 0.240 | Y | 18992540 | non coding transcript exon variant | G/A | snv | 7 | |||
rs3761548 | 0.620 | 0.680 | X | 49261784 | intron variant | G/A;T | snv | 42 | |||
rs3761549 | 0.724 | 0.480 | X | 49260888 | intron variant | G/A | snv | 9.6E-02 | 18 | ||
rs2232365 | 0.716 | 0.480 | X | 49259429 | intron variant | T/C | snv | 16 | |||
rs1800264 | 0.827 | 0.120 | X | 32699141 | missense variant | A/C;G | snv | 5.5E-06; 8.3E-03 | 5 | ||
rs4824505 | 0.925 | 0.080 | X | 44593652 | intergenic variant | G/A | snv | 0.22 | 2 | ||
rs5956583 | 0.925 | 0.080 | X | 123900661 | missense variant | A/C | snv | 0.33 | 0.39 | 2 | |
rs4680 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 249 | |
rs17879961 | 0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 | 53 | ||
rs755622 | 0.611 | 0.720 | 22 | 23894205 | intron variant | G/C | snv | 0.26 | 44 | ||
rs1232898090 | 0.637 | 0.600 | 22 | 46198429 | missense variant | G/C;T | snv | 4.0E-06; 4.0E-06 | 40 | ||
rs1800206 | 0.641 | 0.640 | 22 | 46218377 | missense variant | C/G | snv | 4.3E-02 | 4.2E-02 | 35 | |
rs555607708 | 0.667 | 0.360 | 22 | 28695869 | frameshift variant | G/- | del | 2.0E-03 | 1.8E-03 | 33 | |
rs4818 | 0.683 | 0.440 | 22 | 19963684 | synonymous variant | C/G;T | snv | 0.34 | 27 | ||
rs1065852 | 0.695 | 0.360 | 22 | 42130692 | missense variant | G/A | snv | 0.21 | 0.19 | 19 | |
rs2267437 | 0.724 | 0.320 | 22 | 41620695 | intron variant | C/A;G | snv | 19 | |||
rs1445081098 | 0.724 | 0.480 | 22 | 19963746 | missense variant | G/C | snv | 4.0E-06 | 17 | ||
rs3747093 | 0.732 | 0.200 | 22 | 21630090 | upstream gene variant | G/A | snv | 0.32 | 16 | ||
rs132770 | 0.752 | 0.320 | 22 | 41621260 | 5 prime UTR variant | A/G | snv | 0.83 | 14 | ||
rs5751129 | 0.752 | 0.320 | 22 | 41619761 | intron variant | C/T | snv | 0.69 | 14 | ||
rs200928781 | 0.752 | 0.240 | 22 | 28695800 | missense variant | T/A;C;G | snv | 2.4E-05 | 11 | ||
rs737865 | 0.763 | 0.240 | 22 | 19942598 | intron variant | A/G | snv | 0.23 | 11 | ||
rs137853007 | 0.790 | 0.240 | 22 | 28725254 | missense variant | G/A;T | snv | 5.2E-05 | 9 | ||
rs132793 | 0.851 | 0.160 | 22 | 41667677 | downstream gene variant | A/C;G;T | snv | 7 |