Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs181949335 | 0.925 | 0.120 | 21 | 42382101 | missense variant | C/T | snv | 1.4E-04 | 1.9E-04 | 3 | |
rs1237955948 | 1.000 | 0.120 | 21 | 42382235 | splice acceptor variant | C/A;T | snv | 8.0E-06 | 2 | ||
rs1429442821 | 1.000 | 0.120 | 21 | 42380116 | splice donor variant | C/T | snv | 2 | |||
rs727503493 | 1.000 | 0.120 | 21 | 42389043 | frameshift variant | G/- | delins | 4.9E-04 | 5.7E-04 | 2 | |
rs1060499811 | 1.000 | 0.120 | 21 | 42384004 | stop gained | A/T | snv | 1 | |||
rs1333651774 | 1.000 | 0.120 | 21 | 42384005 | missense variant | C/A | snv | 4.0E-06 | 7.0E-06 | 1 | |
rs137852999 | 1.000 | 0.120 | 21 | 42383062 | missense variant | C/G | snv | 1 | |||
rs137853000 | 1.000 | 0.120 | 21 | 42383168 | missense variant | C/A;T | snv | 8.0E-06 | 1 | ||
rs147231991 | 1.000 | 0.120 | 21 | 42388436 | missense variant | G/T | snv | 9.2E-04 | 1.2E-03 | 1 | |
rs28939084 | 1.000 | 0.120 | 21 | 42375852 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 | 1 | |
rs387906915 | 1.000 | 0.120 | 21 | 42388943 | missense variant | T/C | snv | 1 | |||
rs56264519 | 1.000 | 0.120 | 21 | 42375787 | missense variant | C/T | snv | 9.7E-04 | 1.0E-03 | 1 | |
rs773780151 | 1.000 | 0.120 | 21 | 42375844 | missense variant | A/G | snv | 3.6E-05 | 7.0E-06 | 1 |