Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1556425596 | 0.752 | 0.240 | 21 | 45989967 | intron variant | C/T | snv | 37 | |||
rs1569518070 | 0.752 | 0.480 | 21 | 45989088 | inframe deletion | AAC/- | del | 33 | |||
rs756015202 | 0.925 | 0.120 | 4 | 3493047 | missense variant | C/T | snv | 5.5E-06 | 4 | ||
rs1553846331 | 0.925 | 0.120 | 4 | 3473504 | missense variant | C/T | snv | 4 | |||
rs886039785 | 0.925 | 0.120 | X | 31496876 | stop gained | C/T | snv | 7 | |||
rs781565158 | 0.851 | 0.120 | 12 | 21452130 | missense variant | A/G | snv | 4.7E-05 | 2.1E-05 | 22 | |
rs886041287 | 0.882 | 0.160 | 2 | 178535594 | frameshift variant | -/GT | delins | 8 | |||
rs1565930588 | 0.882 | 0.160 | 12 | 119193787 | frameshift variant | TACTCAACATTTGG/- | del | 19 |