Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs104893877 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 59 | |||
rs121912438 | 0.605 | 0.520 | 21 | 31667299 | missense variant | G/A;C;T | snv | 1.2E-05; 8.0E-06 | 58 | ||
rs75932628 | 0.662 | 0.480 | 6 | 41161514 | missense variant | C/A;T | snv | 6.8E-05; 2.6E-03 | 28 | ||
rs1799990 | 0.683 | 0.440 | 20 | 4699605 | missense variant | A/G | snv | 0.31 | 0.33 | 23 | |
rs143624519 | 0.724 | 0.240 | 17 | 45991484 | missense variant | G/A;T | snv | 1.5E-03; 1.2E-05 | 17 | ||
rs5848 | 0.708 | 0.120 | 17 | 44352876 | 3 prime UTR variant | C/T | snv | 0.41 | 17 | ||
rs1990622 | 0.742 | 0.200 | 7 | 12244161 | downstream gene variant | A/G | snv | 0.52 | 16 | ||
rs367543041 | 0.742 | 0.200 | 1 | 11022553 | missense variant | G/A;C | snv | 3.0E-05 | 15 | ||
rs3173615 | 0.807 | 0.200 | 7 | 12229791 | missense variant | C/A;G | snv | 0.49 | 12 | ||
rs121909329 | 0.763 | 0.200 | 9 | 35065363 | missense variant | C/A;G;T | snv | 11 | |||
rs121909330 | 0.752 | 0.200 | 9 | 35065364 | missense variant | G/A;C;T | snv | 11 | |||
rs121909334 | 0.752 | 0.200 | 9 | 35065255 | missense variant | C/T | snv | 1.6E-05 | 10 | ||
rs767543900 | 0.790 | 0.120 | 17 | 45971879 | missense variant | A/C;G | snv | 4.0E-06 | 10 | ||
rs33949390 | 0.776 | 0.160 | 12 | 40320043 | missense variant | G/A;C;T | snv | 1.6E-04; 1.9E-03; 8.0E-06 | 9 | ||
rs3849942 | 0.776 | 0.200 | 9 | 27543283 | non coding transcript exon variant | T/A;C | snv | 9 | |||
rs34015634 | 0.851 | 0.120 | 12 | 40340380 | missense variant | T/C | snv | 3.2E-05 | 1.4E-05 | 8 | |
rs142444896 | 0.807 | 0.120 | 7 | 56106409 | missense variant | G/A | snv | 9.3E-03 | 7.5E-03 | 6 | |
rs2234253 | 0.827 | 0.120 | 6 | 41161367 | missense variant | G/A;C;T | snv | 1.9E-04; 1.0E-02 | 5 | ||
rs363371 | 0.882 | 0.120 | 10 | 117226885 | TF binding site variant | G/A | snv | 0.19 | 5 | ||
rs4877365 | 0.851 | 0.120 | 9 | 87540777 | intron variant | G/A | snv | 0.28 | 4 | ||
rs4878104 | 0.851 | 0.120 | 9 | 87578076 | intron variant | C/T | snv | 0.40 | 4 | ||
rs1291370551 | 0.882 | 0.120 | 17 | 44349468 | missense variant | T/G | snv | 4.0E-06 | 3 | ||
rs1181028283 | 0.925 | 0.120 | 22 | 23766215 | stop gained | G/A | snv | 4.3E-06 | 2 | ||
rs1470543813 | 0.925 | 0.120 | 16 | 1792093 | stop gained | G/A | snv | 4.3E-06 | 2 | ||
rs363324 | 0.925 | 0.120 | 10 | 117229651 | intergenic variant | G/A | snv | 0.57 | 2 |