Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs587777732 | 0.763 | 0.240 | 20 | 44406195 | missense variant | C/T | snv | 9 | |||
rs137853336 | 0.851 | 0.080 | 20 | 44413714 | missense variant | C/G;T | snv | 4.0E-06; 8.0E-05 | 5 | ||
rs1568731279 | 0.925 | 0.160 | 20 | 44414506 | splice acceptor variant | G/A | snv | 3 | |||
rs370239205 | 0.882 | 0.080 | 20 | 44413708 | missense variant | C/A;T | snv | 4.0E-05; 4.0E-06 | 3 | ||
rs1375557127 | 0.925 | 0.080 | 20 | 44424123 | missense variant | G/A | snv | 4.0E-06 | 2 | ||
rs1392795567 | 0.925 | 0.080 | 20 | 44414663 | splice donor variant | G/A | snv | 2 | |||
rs193922479 | 0.925 | 0.080 | 20 | 44424116 | missense variant | C/A;T | snv | 8.0E-06 | 7.0E-06 | 2 | |
rs1385251852 | 0.925 | 0.080 | 20 | 44406208 | frameshift variant | G/- | delins | 2 | |||
rs1568724014 | 0.925 | 0.080 | 20 | 44407421 | stop gained | C/T | snv | 2 | |||
rs1060499693 | 1.000 | 0.080 | 20 | 44418482 | missense variant | T/A | snv | 1 | |||
rs1280663753 | 1.000 | 0.080 | 20 | 44414548 | inframe deletion | AGA/- | delins | 1 | |||
rs137853334 | 1.000 | 0.080 | 20 | 44419813 | stop gained | C/G;T | snv | 1 | |||
rs137853335 | 1.000 | 0.080 | 20 | 44413795 | stop gained | C/T | snv | 1 | |||
rs137853338 | 1.000 | 0.080 | 20 | 44424243 | missense variant | T/G | snv | 1 | |||
rs1555816654 | 1.000 | 0.080 | 20 | 44419790 | missense variant | T/C | snv | 1 | |||
rs193922469 | 1.000 | 0.080 | 20 | 44428368 | missense variant | C/A;G | snv | 4.0E-06 | 1 | ||
rs193922470 | 1.000 | 0.080 | 20 | 44428458 | splice donor variant | G/C | snv | 1 | |||
rs193922474 | 1.000 | 0.080 | 20 | 44414633 | missense variant | G/C | snv | 1 | |||
rs193922475 | 1.000 | 0.080 | 20 | 44414652 | splice donor variant | ACGACCAGGTGAGGATGG/- | delins | 1 | |||
rs193922476 | 1.000 | 0.080 | 20 | 44418502 | frameshift variant | GCT/TCAA | delins | 1 | |||
rs193922477 | 1.000 | 0.080 | 20 | 44419818 | missense variant | G/C | snv | 4.0E-06 | 4.2E-05 | 1 | |
rs193922471 | 1.000 | 0.080 | 20 | 44407437 | frameshift variant | GG/C | delins | 1 | |||
rs757863935 | 1.000 | 0.080 | 20 | 50125072 | stop gained | G/A | snv | 1 | |||
rs749756893 | 1.000 | 0.080 | 1 | 23362583 | stop gained | G/A | snv | 4.0E-06 | 1 |