Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
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 | |||
rs899127658 | 0.547 | 0.720 | 11 | 46739084 | missense variant | G/A;C | snv | 82 | |||
rs4938723 | 0.574 | 0.680 | 11 | 111511840 | intron variant | T/C | snv | 0.32 | 60 | ||
rs11554290 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 59 | |||
rs121913682 | 0.605 | 0.400 | 4 | 54733167 | missense variant | A/G;T | snv | 52 | |||
rs2430561 | 0.590 | 0.760 | 12 | 68158742 | intron variant | T/A | snv | 0.36 | 50 | ||
rs121913507 | 0.614 | 0.400 | 4 | 54733155 | missense variant | A/T | snv | 49 | |||
rs1801157 | 0.611 | 0.600 | 10 | 44372809 | 3 prime UTR variant | C/T | snv | 0.16 | 46 | ||
rs755622 | 0.611 | 0.720 | 22 | 23894205 | intron variant | G/C | snv | 0.26 | 44 | ||
rs397507520 | 0.658 | 0.520 | 12 | 112453279 | missense variant | G/C;T | snv | 39 | |||
rs153109 | 0.623 | 0.600 | 16 | 28507775 | intron variant | T/C | snv | 0.43 | 37 | ||
rs1057519695 | 0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv | 35 | |||
rs368087026 | 0.637 | 0.520 | 21 | 45530890 | missense variant | G/A | snv | 33 | |||
rs1057519834 | 0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv | 31 | |||
rs4553808 | 0.672 | 0.320 | 2 | 203866282 | upstream gene variant | A/G;T | snv | 0.16 | 28 | ||
rs121913459 | 0.672 | 0.160 | 9 | 130872896 | missense variant | C/T | snv | 25 | |||
rs57095329 | 0.677 | 0.480 | 5 | 160467840 | intron variant | A/G | snv | 7.8E-02 | 25 | ||
rs1275561861 | 0.672 | 0.360 | 6 | 29944350 | missense variant | G/A | snv | 23 | |||
rs2069762 | 0.672 | 0.560 | 4 | 122456825 | upstream gene variant | A/C | snv | 0.24 | 23 | ||
rs1039659576 | 0.689 | 0.520 | 1 | 236803473 | missense variant | A/G | snv | 21 | |||
rs2295080 | 0.695 | 0.320 | 1 | 11262571 | upstream gene variant | G/C;T | snv | 20 | |||
rs2735383 | 0.708 | 0.360 | 8 | 89935041 | 3 prime UTR variant | C/G | snv | 0.31 | 18 | ||
rs1801265 | 0.763 | 0.280 | 1 | 97883329 | missense variant | A/G | snv | 0.28 | 13 |