Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs10230087 | 1.000 | 0.040 | 7 | 114614352 | intron variant | G/A | snv | 0.73 | 2 | ||
rs1163276899 | 1.000 | 0.040 | 3 | 53673125 | missense variant | G/A | snv | 2 | |||
rs12037377 | 1.000 | 0.040 | 1 | 246551218 | missense variant | G/A | snv | 3.2E-03 | 1.6E-03 | 2 | |
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs121917893 | 0.807 | 0.160 | X | 71167508 | missense variant | C/T | snv | 10 | |||
rs121918799 | 0.752 | 0.120 | 2 | 166015636 | missense variant | G/C | snv | 1.7E-03 | 1.6E-03 | 14 | |
rs12531289 | 1.000 | 0.040 | 7 | 114600061 | intron variant | T/A | snv | 0.73 | 2 | ||
rs1275980031 | 1.000 | 0.040 | 7 | 103540259 | missense variant | G/A | snv | 4.0E-06 | 2 | ||
rs12826786 | 0.683 | 0.480 | 12 | 53961717 | upstream gene variant | C/T | snv | 0.38 | 26 | ||
rs1350135 | 1.000 | 0.040 | 7 | 114602621 | intron variant | C/A;G;T | snv | 2 | |||
rs141441277 | 0.882 | 0.120 | X | 100689933 | missense variant | G/A | snv | 5.6E-04 | 3.8E-04 | 5 | |
rs1799793 | 0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 | 72 | ||
rs1801291 | 1.000 | 0.040 | X | 43744144 | synonymous variant | T/C | snv | 2 | |||
rs1804197 | 1.000 | 0.040 | 5 | 112844212 | 3 prime UTR variant | C/A | snv | 7.2E-02 | 2 | ||
rs1858830 | 0.925 | 0.040 | 7 | 116672385 | 5 prime UTR variant | C/G | snv | 0.40 | 4 | ||
rs199473391 | 1.000 | 0.040 | 12 | 2607117 | stop gained | G/A;T | snv | 2 | |||
rs201551401 | 0.925 | 0.040 | 7 | 124746694 | missense variant | C/T | snv | 6.4E-05 | 1.4E-05 | 3 | |
rs2061183 | 1.000 | 0.040 | 7 | 114617959 | intron variant | C/G | snv | 0.73 | 2 | ||
rs2168351 | 0.851 | 0.120 | 15 | 92440492 | intron variant | A/G | snv | 0.33 | 6 | ||
rs2279357 | 0.851 | 0.160 | 15 | 74338282 | intron variant | T/C | snv | 0.69 | 5 | ||
rs237902 | 0.925 | 0.040 | 3 | 8767498 | synonymous variant | G/A | snv | 0.29 | 0.31 | 3 | |
rs251684 | 1.000 | 0.040 | 19 | 48098197 | synonymous variant | T/C | snv | 0.61 | 0.64 | 2 | |
rs25531 | 0.581 | 0.520 | 17 | 30237328 | upstream gene variant | T/C | snv | 0.18 | 72 | ||
rs28934908 | 0.732 | 0.280 | X | 154031409 | missense variant | G/A;T | snv | 5.5E-06 | 23 | ||
rs301430 | 0.827 | 0.080 | 9 | 4576680 | synonymous variant | T/C | snv | 0.36 | 0.38 | 7 |