Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1043307 | 0.776 | 0.360 | 12 | 121915890 | missense variant | A/C;G | snv | 14 | |||
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs1360780 | 0.708 | 0.320 | 6 | 35639794 | intron variant | T/A;C | snv | 31 | |||
rs16139 | 0.658 | 0.560 | 7 | 24285260 | missense variant | T/A;C | snv | 4.0E-06; 3.0E-02 | 36 | ||
rs1799752 | 0.677 | 0.480 | 17 | 63488529 | intron variant | -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | delins | 25 | |||
rs1799889 | 0.649 | 0.600 | 7 | 101126430 | upstream gene variant | A/G | snv | 31 | |||
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
rs1818879 | 0.827 | 0.120 | 7 | 22733108 | downstream gene variant | G/A;C | snv | 7 | |||
rs2242446 | 0.776 | 0.080 | 16 | 55656513 | 5 prime UTR variant | C/A;T | snv | 9 | |||
rs28386840 | 0.827 | 0.080 | 16 | 55652906 | upstream gene variant | T/A;C | snv | 6 | |||
rs3093077 | 0.827 | 0.200 | 1 | 159709846 | upstream gene variant | A/C;G;T | snv | 9 | |||
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs4713916 | 0.790 | 0.160 | 6 | 35702206 | intron variant | A/C;G;T | snv | 11 | |||
rs528732638 | 0.851 | 0.120 | 18 | 26940224 | intron variant | A/-;AA;AAA;AAAA | delins | 5 | |||
rs53576 | 0.641 | 0.320 | 3 | 8762685 | intron variant | A/G;T | snv | 42 | |||
rs5569 | 0.742 | 0.280 | 16 | 55697923 | synonymous variant | G/A;C | snv | 0.31; 4.0E-06 | 19 | ||
rs7305115 | 0.807 | 0.200 | 12 | 71979082 | synonymous variant | A/C;G;T | snv | 4.0E-06; 0.56 | 8 | ||
rs759834365 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 237 | ||
rs766020740 | 0.851 | 0.120 | 22 | 19963644 | missense variant | C/A | snv | 4.0E-06 | 5 | ||
rs794727961 | 0.851 | 0.080 | 12 | 2512979 | missense variant | G/A | snv | 5 | |||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs120074175 | 0.827 | 0.080 | 12 | 72031544 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 | 7 | |
rs749437638 | 0.752 | 0.240 | 22 | 19968597 | missense variant | C/T | snv | 2.4E-05 | 1.4E-05 | 14 | |
rs1415125856 | 0.827 | 0.120 | 11 | 27658550 | splice region variant | G/A | snv | 4.0E-06 | 2.1E-05 | 7 | |
rs776943620 | 0.851 | 0.120 | 17 | 63477287 | missense variant | G/A | snv | 2.1E-05 | 7 |