Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs150712932 | 0.925 | 0.040 | 3 | 47408451 | missense variant | C/T | snv | 1.4E-04 | 1.6E-04 | 2 | |
rs577689618 | 0.925 | 0.040 | 3 | 47406548 | missense variant | G/A;T | snv | 3.6E-05; 8.0E-06 | 2 | ||
rs770692989 | 0.925 | 0.040 | 3 | 47410545 | missense variant | A/G | snv | 3.4E-05 | 3.7E-05 | 2 | |
rs967738491 | 0.925 | 0.040 | 3 | 47410478 | missense variant | C/T | snv | 4.2E-06 | 3.5E-05 | 2 | |
rs1085307134 | 0.925 | 0.040 | 8 | 143816728 | missense variant | C/T | snv | 2 | |||
rs1569097392 | 1.000 | 22 | 50676625 | stop gained | C/T | snv | 2 | ||||
rs730882221 | 0.925 | 12 | 110626360 | splice acceptor variant | A/G | snv | 2 | ||||
rs1057517846 | 1.000 | 16 | 78108446 | stop gained | G/A | snv | 2 | ||||
rs1564069807 | 0.925 | 0.040 | 9 | 85619213 | splice donor variant | A/C | snv | 3 | |||
rs121434350 | 0.882 | 0.240 | 6 | 135455750 | missense variant | A/T | snv | 3 | |||
rs192669225 | 0.925 | 0.040 | 1 | 109628692 | missense variant | G/A | snv | 3 | |||
rs2076101 | 0.925 | 0.080 | 22 | 39049549 | missense variant | G/A | snv | 0.52 | 0.44 | 3 | |
rs730882200 | 0.882 | 0.040 | 20 | 48953604 | frameshift variant | -/C | delins | 3 | |||
rs746536347 | 0.882 | 0.040 | 1 | 1490639 | missense variant | C/T | snv | 2.6E-05 | 3.5E-05 | 3 | |
rs1555736565 | 0.925 | 0.080 | 19 | 13230191 | missense variant | C/A;T | snv | 3 | |||
rs140630794 | 0.925 | 0.040 | 21 | 36397429 | missense variant | A/C;G | snv | 1.3E-05; 4.2E-06 | 3 | ||
rs535661345 | 0.925 | 0.120 | 2 | 237372173 | missense variant | C/T | snv | 2.0E-04 | 2.1E-05 | 3 | |
rs750745310 | 0.882 | 0.040 | 12 | 32743390 | missense variant | C/T | snv | 3 | |||
rs367619008 | 0.925 | 0.080 | 1 | 97828160 | missense variant | T/C | snv | 3.2E-05 | 3.5E-05 | 3 | |
rs398123061 | 0.882 | 0.120 | 6 | 98875673 | missense variant | G/A | snv | 2.8E-05 | 2.8E-05 | 3 | |
rs1568427678 | 0.882 | 0.160 | 19 | 12896243 | missense variant | G/C | snv | 3 | |||
rs764774411 | 0.925 | 0.120 | 19 | 12896052 | missense variant | G/C | snv | 4.0E-06 | 3 | ||
rs1060499687 | 0.882 | 0.160 | 12 | 101757657 | splice acceptor variant | GC/AT | mnv | 3 | |||
rs1555268712 | 0.882 | 0.160 | 12 | 101757459 | coding sequence variant | -/ATTTTAGAACAGTGCTTAATAGACAAAATATTGTAGAATTATAAAAAAGCCAGACCTTTGTGATTACTCTTATACTAAACAAAGGGAGTATGCGTGTACTACTTACCTATATTTGTTTTTGTCCTTATATGCTTTGTGGATTTTGTCAGTTACTGGTTTACAGTTTGTTACTAGACTTTTAGTGACCGGTGGCTATGAGAAAATATAA | delins | 3 | |||
rs587777848 | 0.882 | 0.040 | 20 | 49374519 | missense variant | G/C;T | snv | 3 |