Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs671 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 116 | |
rs1801252 | 0.724 | 0.320 | 10 | 114044277 | missense variant | A/G | snv | 0.15 | 0.17 | 17 | |
rs1801253 | 0.683 | 0.440 | 10 | 114045297 | missense variant | G/C | snv | 0.74 | 0.69 | 34 | |
rs7521023 | 1.000 | 0.040 | 1 | 115700759 | 3 prime UTR variant | G/A | snv | 0.64 | 2 | ||
rs6684209 | 1.000 | 0.040 | 1 | 115707991 | intron variant | C/T | snv | 0.17 | 2 | ||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs198358 | 0.925 | 0.040 | 1 | 11844019 | 3 prime UTR variant | T/C | snv | 0.32 | 4 | ||
rs5068 | 0.776 | 0.160 | 1 | 11845917 | 3 prime UTR variant | A/G;T | snv | 13 | |||
rs5370 | 0.630 | 0.520 | 6 | 12296022 | missense variant | G/T | snv | 0.23 | 0.21 | 37 | |
rs1801282 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 131 | |
rs1805192 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 121 | |||
rs9838915 | 0.882 | 0.120 | 3 | 126347377 | intron variant | G/A | snv | 0.19 | 4 | ||
rs7799039 | 0.649 | 0.560 | 7 | 128238730 | upstream gene variant | G/A;C | snv | 33 | |||
rs1799998 | 0.742 | 0.200 | 8 | 142918184 | upstream gene variant | A/G;T | snv | 0.38 | 14 | ||
rs5186 | 0.630 | 0.560 | 3 | 148742201 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 | 38 | |
rs1042713 | 0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 | 63 | |
rs1042714 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 54 | ||
rs1800888 | 0.695 | 0.400 | 5 | 148827322 | missense variant | C/T | snv | 9.1E-03 | 9.1E-03 | 23 | |
rs2306235 | 0.827 | 0.040 | 1 | 150150942 | missense variant | C/G;T | snv | 1.1E-02; 1.6E-05 | 4.4E-03 | 6 | |
rs2070744 | 0.608 | 0.680 | 7 | 150992991 | intron variant | C/T | snv | 0.70 | 54 | ||
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
rs2149954 | 0.882 | 0.080 | 5 | 158393594 | intron variant | C/T | snv | 0.37 | 5 | ||
rs10927887 | 0.925 | 0.040 | 1 | 16024780 | missense variant | A/C;G | snv | 0.55 | 3 | ||
rs5219 | 0.701 | 0.360 | 11 | 17388025 | stop gained | T/A;C | snv | 0.64 | 25 | ||
rs10757274 | 0.701 | 0.320 | 9 | 22096056 | intron variant | A/G | snv | 0.41 | 22 |