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 | |||
rs6265 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 272 | |
rs25487 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 205 | |
rs1695 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 188 | |
rs1052133 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 147 | |
rs861539 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 104 | |
rs2228570 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 99 | ||
rs1544410 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 78 | |||
rs7041 | 0.576 | 0.800 | 4 | 71752617 | missense variant | A/C;T | snv | 0.52; 4.0E-06 | 64 | ||
rs7975232 | 0.576 | 0.760 | 12 | 47845054 | intron variant | C/A | snv | 0.51 | 0.55 | 56 | |
rs1138272 | 0.611 | 0.600 | 11 | 67586108 | missense variant | C/T | snv | 5.9E-02 | 5.5E-02 | 42 | |
rs10735810 | 0.662 | 0.640 | 12 | 47879112 | start lost | A/C;G;T | snv | 26 | |||
rs1805007 | 0.695 | 0.280 | 16 | 89919709 | missense variant | C/A;G;T | snv | 4.4E-02 | 25 | ||
rs1805008 | 0.732 | 0.240 | 16 | 89919736 | missense variant | C/T | snv | 4.7E-02 | 4.8E-02 | 16 | |
rs885479 | 0.732 | 0.280 | 16 | 89919746 | missense variant | G/A | snv | 0.15 | 8.3E-02 | 16 | |
rs104894104 | 0.790 | 0.160 | 9 | 21971019 | missense variant | G/A;T | snv | 7 | |||
rs132985 | 0.827 | 0.120 | 22 | 38167464 | intron variant | C/T | snv | 0.51 | 5 | ||
rs4911414 | 0.882 | 0.120 | 20 | 34141638 | regulatory region variant | T/G | snv | 0.73 | 5 | ||
rs2284063 | 0.851 | 0.160 | 22 | 38148291 | non coding transcript exon variant | A/G | snv | 0.40 | 4 | ||
rs387906410 | 0.882 | 0.080 | 9 | 21971019 | missense variant | GC/AG | mnv | 4 | |||
rs34090186 | 0.882 | 0.080 | 16 | 89919458 | missense variant | G/A | snv | 9.6E-04 | 2.7E-04 | 3 | |
rs1232525952 | 0.925 | 0.080 | 16 | 89919597 | synonymous variant | G/A | snv | 8.1E-06 | 2 | ||
rs1340863788 | 0.925 | 0.080 | 16 | 89919595 | missense variant | C/A;T | snv | 2 | |||
rs575031539 | 0.925 | 0.080 | 9 | 21971020 | missense variant | C/G;T | snv | 4.2E-06 | 2 |