Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs55960271 | 0.882 | 0.120 | 7 | 143351678 | stop gained | C/A;T | snv | 4.0E-06; 2.9E-03 | 5 | ||
rs1057518905 | 1 | 155140104 | missense variant | A/T | snv | 3 | |||||
rs878854378 | 0.742 | 0.320 | 2 | 178533657 | inframe deletion | GTT/- | delins | 33 | |||
rs543860009 | 0.742 | 0.320 | 2 | 178589003 | stop gained | G/A;T | snv | 33 | |||
rs199564797 | 0.742 | 0.360 | 1 | 25809150 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 | 25 | |
rs121908188 | 0.742 | 0.360 | 1 | 25809753 | missense variant | G/A;C | snv | 1.8E-04 | 25 | ||
rs745886248 | 0.742 | 0.360 | 1 | 25811710 | missense variant | G/A;C;T | snv | 4.3E-06; 4.3E-06; 4.3E-06 | 25 | ||
rs1057518834 | X | 32849737 | frameshift variant | C/- | delins | 9 | |||||
rs80338800 | 0.827 | 0.120 | 15 | 42387803 | frameshift variant | A/- | delins | 21 |