Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs140614802 | 0.851 | 0.040 | 14 | 104741231 | missense variant | G/A | snv | 3.4E-05 | 2.8E-05 | 10 | |
rs1114167292 | 0.882 | 0.080 | 3 | 197704686 | missense variant | C/T | snv | 1.4E-05 | 6 | ||
rs767982852 | 0.882 | 0.080 | 3 | 197694417 | missense variant | T/C | snv | 8.0E-06 | 4.9E-05 | 6 | |
rs80338800 | 0.827 | 0.120 | 15 | 42387803 | frameshift variant | A/- | delins | 21 | |||
rs1555421871 | 0.882 | 0.120 | 15 | 42399617 | frameshift variant | G/- | delins | 6 | |||
rs1557182692 | 0.925 | 0.120 | X | 154381106 | frameshift variant | TCTGG/- | del | 3 | |||
rs1557182214 | 0.925 | 0.120 | X | 154379567 | splice donor variant | G/T | snv | 2 | |||
rs1554122802 | 0.742 | 0.160 | 5 | 128335170 | missense variant | C/T | snv | 22 | |||
rs63750687 | 0.752 | 0.200 | 14 | 73217137 | missense variant | C/A;G;T | snv | 30 | |||
rs1345176461 | 0.716 | 0.240 | 14 | 77027231 | stop gained | G/A;T | snv | 4.3E-06 | 40 | ||
rs1556425596 | 0.752 | 0.240 | 21 | 45989967 | intron variant | C/T | snv | 37 | |||
rs587784347 | 0.742 | 0.280 | 22 | 38113561 | missense variant | G/A | snv | 8.0E-06 | 38 | ||
rs312262690 | 0.752 | 0.320 | 4 | 79984831 | frameshift variant | -/G;GG | delins | 1.7E-05 | 28 | ||
rs1569518070 | 0.752 | 0.480 | 21 | 45989088 | inframe deletion | AAC/- | del | 33 |