Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs11554290 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 59 | |||
rs121913237 | 0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 | 50 | ||
rs2234922 | 0.630 | 0.440 | 1 | 225838705 | missense variant | A/G;T | snv | 0.19; 2.8E-05 | 42 | ||
rs1057519695 | 0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv | 35 | |||
rs1057519834 | 0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv | 31 | |||
rs121913254 | 0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv | 31 | |||
rs1800890 | 0.658 | 0.400 | 1 | 206776020 | intron variant | A/T | snv | 0.32 | 29 | ||
rs121913255 | 0.667 | 0.400 | 1 | 114713907 | missense variant | T/A;G | snv | 26 | |||
rs121913250 | 0.683 | 0.440 | 1 | 114716127 | missense variant | C/A;G;T | snv | 25 | |||
rs1178732315 | 0.882 | 0.240 | 1 | 155236381 | missense variant | A/G | snv | 1.4E-05 | 3 | ||
rs1057520009 | 0.790 | 0.200 | 2 | 61492337 | missense variant | C/T | snv | 4.4E-06 | 14 | ||
rs1390458638 | 0.925 | 0.120 | 2 | 219216441 | missense variant | G/A | snv | 4.0E-06 | 2 | ||
rs387907272 | 0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 | 73 | |
rs1239470707 | 0.925 | 0.120 | 3 | 12416785 | missense variant | C/A | snv | 2 | |||
rs2231142 | 0.583 | 0.680 | 4 | 88131171 | missense variant | G/C;T | snv | 4.0E-06; 0.12 | 56 | ||
rs6449182 | 0.807 | 0.160 | 4 | 15778830 | intron variant | C/G | snv | 0.22 | 6 | ||
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
rs2736098 | 0.600 | 0.600 | 5 | 1293971 | synonymous variant | C/T | snv | 0.29 | 0.22 | 48 | |
rs1227230819 | 0.925 | 0.120 | 5 | 37815877 | missense variant | T/C | snv | 4.0E-06 | 2 | ||
rs7712513 | 0.925 | 0.120 | 5 | 122582513 | intergenic variant | G/T | snv | 0.71 | 2 | ||
rs10484561 | 0.827 | 0.160 | 6 | 32697643 | intergenic variant | T/G | snv | 0.13 | 6 | ||
rs1312391542 | 0.925 | 0.120 | 6 | 106104897 | missense variant | G/A;T | snv | 2 | |||
rs7765004 | 0.925 | 0.120 | 6 | 113750518 | regulatory region variant | A/C | snv | 0.32 | 2 | ||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 |