Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs7335046 | 0.807 | 0.040 | 13 | 99389484 | downstream gene variant | G/C | snv | 0.80 | 7 | ||
rs41303402 | 1.000 | 0.040 | 7 | 129203437 | missense variant | G/A;T | snv | 1.0E-04; 5.7E-06 | 2 | ||
rs2293152 | 0.763 | 0.480 | 17 | 42329511 | intron variant | G/A;C;T | snv | 2.8E-05; 0.59; 1.6E-05 | 10 | ||
rs357564 | 0.827 | 0.160 | 9 | 95447312 | missense variant | G/A;C;T | snv | 0.39; 1.2E-05; 4.1E-06 | 6 | ||
rs2228479 | 0.763 | 0.280 | 16 | 89919532 | missense variant | G/A;C | snv | 7.8E-02; 4.0E-06 | 11 | ||
rs17710891 | 0.925 | 0.040 | 7 | 129209348 | missense variant | G/A;C | snv | 2.4E-05 | 2 | ||
rs1800629 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 169 | |
rs1799782 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 151 | |
rs861539 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 104 | |
rs1222213359 | 0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv | 62 | |||
rs361525 | 0.562 | 0.760 | 6 | 31575324 | upstream gene variant | G/A | snv | 4.6E-02 | 62 | ||
rs1126809 | 0.683 | 0.320 | 11 | 89284793 | missense variant | G/A | snv | 0.18 | 0.18 | 29 | |
rs2151280 | 0.701 | 0.360 | 9 | 22034720 | non coding transcript exon variant | G/A | snv | 0.46 | 16 | ||
rs885479 | 0.732 | 0.280 | 16 | 89919746 | missense variant | G/A | snv | 0.15 | 8.3E-02 | 16 | |
rs749140677 | 0.752 | 0.240 | 12 | 47857185 | missense variant | G/A | snv | 8.0E-06 | 13 | ||
rs1036980234 | 0.827 | 0.160 | 9 | 95447156 | missense variant | G/A | snv | 6 | |||
rs7538876 | 0.807 | 0.120 | 1 | 17395867 | intron variant | G/A | snv | 0.37 | 6 | ||
rs214782 | 0.851 | 0.040 | 20 | 2301324 | intron variant | G/A | snv | 0.73 | 4 | ||
rs778031266 | 0.882 | 0.360 | 11 | 108316114 | splice donor variant | G/A | snv | 4.0E-06 | 4 | ||
rs749496294 | 0.925 | 0.040 | 20 | 3562435 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 | 3 | |
rs121918348 | 0.925 | 0.040 | 7 | 129210997 | missense variant | G/A | snv | 4.0E-05 | 2.8E-05 | 2 | |
rs2805831 | 1.000 | 0.040 | 9 | 97704354 | intron variant | G/A | snv | 0.18 | 2 | ||
rs555607708 | 0.667 | 0.360 | 22 | 28695869 | frameshift variant | G/- | del | 2.0E-03 | 1.8E-03 | 33 | |
rs869025212 | 0.827 | 0.200 | 3 | 52403428 | frameshift variant | G/- | delins | 6 | |||
rs401681 | 0.620 | 0.640 | 5 | 1321972 | intron variant | C/T | snv | 0.48 | 42 |