Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1052133 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 147 | |
rs6234 | 0.851 | 0.160 | 5 | 96393270 | missense variant | G/C | snv | 0.27 | 0.24 | 8 | |
rs854560 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 113 | ||
rs662 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 157 | |
rs2236242 | 0.776 | 0.280 | 14 | 94493715 | intron variant | T/A | snv | 0.31 | 9 | ||
rs1049353 | 0.630 | 0.600 | 6 | 88143916 | synonymous variant | C/T | snv | 0.21 | 0.20 | 42 | |
rs2231142 | 0.583 | 0.680 | 4 | 88131171 | missense variant | G/C;T | snv | 4.0E-06; 0.12 | 56 | ||
rs2032582 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 97 | ||
rs116843064 | 0.776 | 0.160 | 19 | 8364439 | missense variant | G/A | snv | 1.3E-02 | 1.5E-02 | 16 | |
rs1761667 | 0.752 | 0.320 | 7 | 80615623 | intron variant | G/A | snv | 0.49 | 12 | ||
rs749710704 | 0.790 | 0.160 | 5 | 79119289 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 7 | ||
rs372359132 | 0.827 | 0.160 | 5 | 7878203 | missense variant | A/G | snv | 4.0E-06 | 2.1E-05 | 5 | |
rs1801394 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 101 | |
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 | |||
rs1378942 | 0.790 | 0.240 | 15 | 74785026 | intron variant | C/A;T | snv | 16 | |||
rs1800849 | 0.851 | 0.160 | 11 | 74009120 | upstream gene variant | G/A;T | snv | 5 | |||
rs659366 | 0.724 | 0.520 | 11 | 73983709 | non coding transcript exon variant | C/T | snv | 0.40 | 17 | ||
rs660339 | 0.695 | 0.320 | 11 | 73978059 | missense variant | G/A | snv | 0.41 | 0.43 | 24 | |
rs3812316 | 0.763 | 0.240 | 7 | 73606007 | missense variant | C/G | snv | 0.10 | 9.4E-02 | 14 | |
rs7041 | 0.576 | 0.800 | 4 | 71752617 | missense variant | A/C;T | snv | 0.52; 4.0E-06 | 64 | ||
rs4588 | 0.597 | 0.720 | 4 | 71752606 | missense variant | G/A;T | snv | 1.6E-05; 0.25 | 53 | ||
rs2282679 | 0.645 | 0.480 | 4 | 71742666 | intron variant | T/G | snv | 0.21 | 38 | ||
rs1181860747 | 0.776 | 0.240 | 19 | 7122961 | missense variant | C/T | snv | 10 |