Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
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 | |||
rs25487 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 205 | |
rs1799782 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 151 | |
rs13181 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 134 | ||
rs11614913 | 0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 | 111 | |
rs1353702185 | 0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 | 79 | ||
rs28934576 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 78 | ||
rs17576 | 0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 | 73 | |
rs11540652 | 0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 | 57 | ||
rs121912651 | 0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 | 53 | ||
rs28934578 | 0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 | 47 | ||
rs872071 | 0.742 | 0.360 | 6 | 411064 | 3 prime UTR variant | A/G;T | snv | 13 | |||
rs735665 | 0.776 | 0.280 | 11 | 123490689 | intron variant | G/A | snv | 0.15 | 8 | ||
rs13397985 | 0.827 | 0.280 | 2 | 230226508 | intron variant | T/C;G | snv | 5 | |||
rs17483466 | 0.827 | 0.280 | 2 | 111039881 | intron variant | A/G | snv | 0.15 | 5 | ||
rs2456449 | 0.827 | 0.280 | 8 | 127180736 | intron variant | A/G | snv | 0.30 | 5 | ||
rs305061 | 0.851 | 0.280 | 16 | 85942053 | intron variant | C/A;T | snv | 4 | |||
rs7176508 | 0.851 | 0.280 | 15 | 69726651 | intron variant | A/G | snv | 0.67 | 4 | ||
rs757978 | 0.851 | 0.200 | 2 | 241431686 | missense variant | C/A;T | snv | 4.1E-06; 9.3E-02 | 4 | ||
rs11083846 | 0.882 | 0.200 | 19 | 46704397 | splice region variant | G/A | snv | 0.17 | 0.16 | 3 | |
rs11668878 | 0.925 | 0.200 | 19 | 46765116 | intron variant | G/T | snv | 5.1E-02 | 2 | ||
rs7169431 | 0.925 | 0.200 | 15 | 56048698 | intergenic variant | A/G;T | snv | 2 |