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 | |
rs2231142 | 0.583 | 0.680 | 4 | 88131171 | missense variant | G/C;T | snv | 4.0E-06; 0.12 | 56 | ||
rs121907892 | 0.807 | 0.240 | 11 | 64593747 | stop gained | G/A;C | snv | 2.8E-04 | 8 | ||
rs16890979 | 0.827 | 0.200 | 4 | 9920543 | missense variant | C/T | snv | 0.24 | 0.29 | 7 | |
rs6855911 | 0.851 | 0.200 | 4 | 9934286 | intron variant | A/G | snv | 0.33 | 7 | ||
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 | ||
rs138551969 | 1.000 | 0.040 | 6 | 43780749 | missense variant | A/G | snv | 1.2E-05 | 3.5E-05 | 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 | ||
rs2054576 | 0.882 | 0.160 | 4 | 88107623 | intron variant | A/G | snv | 7.8E-02 | 4 | ||
rs2544390 | 0.925 | 0.080 | 2 | 169348336 | intron variant | C/T | snv | 0.45 | 4 | ||
rs2941484 | 0.882 | 0.160 | 8 | 75566533 | 3 prime UTR variant | C/T | snv | 0.52 | 4 | ||
rs35258188 | 1.000 | 0.040 | 15 | 53705141 | missense variant | T/G | snv | 3.5E-03 | 1.5E-02 | 4 | |
rs505802 | 0.882 | 0.160 | 11 | 64589600 | upstream gene variant | T/C | snv | 0.45 | 4 | ||
rs143231463 | 1.000 | 0.040 | 6 | 7226577 | missense variant | A/G | snv | 1.8E-04 | 2.1E-04 | 3 | |
rs151305324 | 1.000 | 0.040 | 5 | 73123606 | missense variant | G/A | snv | 6.8E-05; 8.0E-06 | 9.1E-05 | 3 | |
rs200933617 | 1.000 | 0.040 | 16 | 69647162 | missense variant | G/A | snv | 8.2E-04 | 6.7E-04 | 3 | |
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 | ||
rs199897813 | 1.000 | 0.040 | 4 | 88094576 | splice donor variant | C/A;T | snv | 5.2E-05 | 2 |