Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2231142 | 0.583 | 0.680 | 4 | 88131171 | missense variant | G/C;T | snv | 4.0E-06; 0.12 | 56 | ||
rs187238 | 0.602 | 0.680 | 11 | 112164265 | intron variant | C/A;G | snv | 48 | |||
rs763059810 | 0.623 | 0.600 | 2 | 136115750 | missense variant | T/C | snv | 4.0E-06 | 41 | ||
rs1232898090 | 0.637 | 0.600 | 22 | 46198429 | missense variant | G/C;T | snv | 4.0E-06; 4.0E-06 | 40 | ||
rs1555206402 | 0.790 | 0.320 | 11 | 119093274 | stop lost | GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- | delins | 26 | |||
rs1137070 | 0.763 | 0.160 | X | 43744144 | synonymous variant | T/C | snv | 0.62 | 9 | ||
rs121907892 | 0.807 | 0.240 | 11 | 64593747 | stop gained | G/A;C | snv | 2.8E-04 | 8 | ||
rs33972313 | 0.790 | 0.160 | 5 | 139379813 | missense variant | C/A;G;T | snv | 4.0E-06; 2.7E-02 | 8 | ||
rs149454410 | 0.925 | 0.120 | 4 | 9942000 | missense variant | C/G;T | snv | 4.0E-05; 3.2E-04 | 5 | ||
rs186459505 | 0.925 | 0.120 | 3 | 52907083 | missense variant | G/A;T | snv | 1.1E-04; 4.0E-06 | 5 | ||
rs11554266 | 1.000 | 0.040 | 20 | 58903791 | splice region variant | C/G;T | snv | 4.0E-06; 2.3E-03 | 4 | ||
rs141310123 | 0.925 | 0.120 | 18 | 79411390 | missense variant | C/A;T | snv | 2.1E-04; 4.8E-06 | 4 | ||
rs147445322 | 0.882 | 0.120 | 11 | 2847803 | missense variant | G/A;T | snv | 7.2E-05; 5.5E-06 | 4 | ||
rs201874364 | 1.000 | 0.040 | 3 | 186065822 | missense variant | C/A;T | snv | 4.0E-06; 7.2E-05 | 4 | ||
rs202007714 | 1.000 | 0.040 | 3 | 66383098 | missense variant | G/A;C | snv | 1.4E-04; 4.0E-06 | 4 | ||
rs61754122 | 1.000 | 0.040 | 20 | 54028628 | missense variant | C/A;T | snv | 1.1E-02; 8.0E-06 | 3 | ||
rs143583842 | 1.000 | 0.040 | 16 | 20341262 | missense variant | G/A;T | snv | 7.4E-04; 1.2E-05 | 2 | ||
rs149722479 | 0.925 | 0.200 | 11 | 64592788 | missense variant | G/A;C | snv | 4.8E-05; 9.6E-05 | 2 | ||
rs199897813 | 1.000 | 0.040 | 4 | 88094576 | splice donor variant | C/A;T | snv | 5.2E-05 | 2 | ||
rs28934583 | 0.925 | 0.240 | 16 | 20348652 | missense variant | A/C;G | snv | 2 | |||
rs6837293 | 0.925 | 0.160 | 4 | 81141777 | intron variant | C/A;T | snv | 2 | |||
rs1025993235 | 1.000 | 0.040 | 17 | 18865880 | missense variant | C/T | snv | 1 | |||
rs1209613132 | 1.000 | 0.040 | 7 | 94404745 | missense variant | C/T | snv | 4.0E-06 | 1 | ||
rs1230053514 | 1.000 | 0.040 | 11 | 64598551 | missense variant | C/T | snv | 1 | |||
rs1529909 | 1.000 | 0.040 | 11 | 64598471 | intron variant | T/A;C | snv | 6.5E-06; 0.57 | 1 |