Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs25487 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 205 | |
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
rs1695 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 188 | |
rs1799782 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 151 | |
rs1052133 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 147 | |
rs13181 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 134 | ||
rs1800896 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 113 | ||
rs3746444 | 0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 | 105 | |
rs861539 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 104 | |
rs1048943 | 0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 | 88 | |
rs25489 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 78 | ||
rs1130409 | 0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 | 72 | ||
rs1799793 | 0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 | 72 | ||
rs2243250 | 0.570 | 0.760 | 5 | 132673462 | upstream gene variant | C/T | snv | 0.35 | 61 | ||
rs28362491 | 0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins | 56 | |||
rs12917 | 0.605 | 0.480 | 10 | 129708019 | missense variant | C/T | snv | 0.14 | 0.14 | 45 | |
rs2234922 | 0.630 | 0.440 | 1 | 225838705 | missense variant | A/G;T | snv | 0.19; 2.8E-05 | 42 | ||
rs16969968 | 0.653 | 0.360 | 15 | 78590583 | missense variant | G/A | snv | 0.26 | 0.24 | 37 | |
rs9344 | 0.653 | 0.480 | 11 | 69648142 | splice region variant | G/A | snv | 0.45 | 0.39 | 34 | |
rs578776 | 0.742 | 0.240 | 15 | 78596058 | 3 prime UTR variant | G/A | snv | 0.39 | 13 |