Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs797045032 | 0.827 | 0.280 | 7 | 143321720 | missense variant | GG/TC | mnv | 11 | |||
rs80356702 | 0.882 | 0.120 | 7 | 143330868 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 9 | |
rs149729531 | 0.851 | 0.200 | 7 | 143321432 | missense variant | C/G | snv | 1.2E-03 | 7.5E-04 | 6 | |
rs80356704 | 0.827 | 0.200 | 7 | 143341938 | missense variant | C/T | snv | 4.4E-05 | 2.1E-05 | 6 | |
rs55960271 | 0.882 | 0.120 | 7 | 143351678 | stop gained | C/A;T | snv | 4.0E-06; 2.9E-03 | 5 | ||
rs80356690 | 0.882 | 0.120 | 7 | 143330788 | missense variant | C/G;T | snv | 1.2E-05 | 4 | ||
rs80356696 | 0.851 | 0.120 | 7 | 143342001 | missense variant | A/G;T | snv | 4 | |||
rs1057518917 | 0.925 | 0.120 | 7 | 143351633 | stop gained | C/T | snv | 8.0E-06 | 1.4E-05 | 3 | |
rs121912799 | 0.882 | 0.120 | 7 | 143332490 | missense variant | T/G | snv | 3.7E-04 | 2.7E-04 | 3 | |
rs146457619 | 0.882 | 0.120 | 7 | 143339304 | missense variant | A/G | snv | 4.0E-04 | 3.8E-04 | 3 | |
rs748537564 | 0.882 | 0.160 | 7 | 143345595 | missense variant | C/A;T | snv | 9.5E-05 | 3 | ||
rs757109632 | 0.882 | 0.120 | 7 | 143324468 | missense variant | T/C | snv | 2.1E-05 | 3 | ||
rs762754992 | 0.882 | 0.120 | 7 | 143341995 | missense variant | C/T | snv | 1.6E-05 | 3 | ||
rs764100025 | 0.882 | 0.120 | 7 | 143330810 | missense variant | G/A | snv | 1.6E-05 | 3 | ||
rs768119034 | 0.882 | 0.120 | 7 | 143339287 | frameshift variant | ACCCTGCGGAGGCT/- | delins | 5.6E-05 | 9.8E-05 | 3 | |
rs80356687 | 0.882 | 0.120 | 7 | 143324442 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 | 3 | |
rs80356692 | 0.882 | 0.120 | 7 | 143330855 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 3 | |
rs80356697 | 0.882 | 0.120 | 7 | 143342013 | missense variant | T/A | snv | 1.6E-05 | 3 | ||
rs80356700 | 0.882 | 0.120 | 7 | 143321841 | missense variant | G/A;T | snv | 1.2E-05; 8.0E-06 | 3 | ||
rs80356701 | 0.882 | 0.120 | 7 | 143330838 | missense variant | T/C | snv | 6.0E-05 | 3.5E-05 | 3 | |
rs80356703 | 0.882 | 0.120 | 7 | 143331265 | missense variant | G/A;T | snv | 2.8E-05 | 3 | ||
rs121912801 | 0.925 | 0.120 | 7 | 143339527 | missense variant | G/T | snv | 1.6E-05 | 1.4E-05 | 2 | |
rs1222525763 | 0.925 | 0.120 | 7 | 143346578 | splice acceptor variant | G/C;T | snv | 4.0E-06 | 2 | ||
rs1273524525 | 0.925 | 0.120 | 7 | 143345763 | splice donor variant | G/A;C;T | snv | 8.7E-06 | 2 | ||
rs1423567292 | 0.925 | 0.120 | 7 | 143323308 | splice region variant | G/- | delins | 4.0E-06 | 1.4E-05 | 2 |