Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs854560 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 113 | ||
rs13306698 | 0.882 | 0.240 | 7 | 95311470 | missense variant | T/C | snv | 6.0E-03 | 1.9E-03 | 3 | |
rs114216685 | 1.000 | 0.120 | 8 | 94391640 | missense variant | T/C | snv | 8.8E-04 | 3.9E-04 | 1 | |
rs2991216 | 1.000 | 0.120 | 9 | 90865745 | intron variant | A/G | snv | 0.21 | 1 | ||
rs441399 | 1.000 | 0.120 | 15 | 90822992 | regulatory region variant | G/A | snv | 0.50 | 1 | ||
rs758837678 | 0.925 | 0.120 | 8 | 90001503 | missense variant | C/T | snv | 2 | |||
rs1805794 | 0.605 | 0.600 | 8 | 89978251 | missense variant | C/G | snv | 0.35 | 0.31 | 41 | |
rs34767364 | 0.701 | 0.280 | 8 | 89971232 | missense variant | G/A;C | snv | 2.5E-03 | 20 | ||
rs4934436 | 1.000 | 0.120 | 10 | 89023563 | intergenic variant | C/T | snv | 0.60 | 1 | ||
rs758835365 | 1.000 | 0.120 | 10 | 89010795 | stop gained | C/T | snv | 8.0E-06 | 7.0E-06 | 1 | |
rs606231364 | 0.925 | 0.160 | 10 | 89003071 | missense variant | G/A | snv | 2 | |||
rs13178127 | 1.000 | 0.120 | 5 | 83293613 | intron variant | A/G | snv | 3.3E-02 | 1 | ||
rs2682818 | 0.742 | 0.320 | 12 | 80935757 | non coding transcript exon variant | A/C;T | snv | 0.83 | 14 | ||
rs161870 | 0.925 | 0.160 | 5 | 7878079 | synonymous variant | T/C | snv | 0.18 | 0.21 | 2 | |
rs1801394 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 101 | |
rs8094402 | 0.882 | 0.120 | 18 | 76995493 | intron variant | A/G | snv | 0.25 | 3 | ||
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs878854066 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 213 | |||
rs886039484 | 0.641 | 0.440 | 17 | 7674888 | missense variant | T/C;G | snv | 32 | |||
rs1057520001 | 0.677 | 0.360 | 17 | 7674886 | missense variant | A/C;G | snv | 23 | |||
rs1048943 | 0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 | 88 | |
rs3813729 | 0.925 | 0.120 | 12 | 7089608 | missense variant | C/G;T | snv | 2 | |||
rs603965 | 0.732 | 0.440 | 11 | 69648142 | splice region variant | G/A | snv | 14 | |||
rs1695 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 188 |