Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1555809836 | 20 | 50892215 | frameshift variant | T/- | delins | 1 | |||||
rs797044890 | 16 | 89275092 | splice donor variant | C/T | snv | 1 | |||||
rs1554231814 | 6 | 157184262 | frameshift variant | C/- | del | 1 | |||||
rs797044859 | 6 | 157200765 | frameshift variant | AT/- | del | 1 | |||||
rs1555912419 | 20 | 32435823 | stop gained | G/A | snv | 1 | |||||
rs1555918056 | X | 40072918 | stop gained | G/A | snv | 1 | |||||
rs1555815731 | 20 | 57228383 | frameshift variant | G/- | delins | 1 | |||||
rs750803248 | 10 | 71646592 | frameshift variant | -/G | delins | 1 | |||||
rs866435331 | 10 | 71712685 | stop gained | C/T | snv | 1 | |||||
rs1554603550 | 8 | 60850514 | missense variant | T/G | snv | 1 | |||||
rs1554604059 | 8 | 60852866 | frameshift variant | AG/- | delins | 1 | |||||
rs1554605030 | 8 | 60856559 | frameshift variant | -/T | delins | 1 | |||||
rs797044919 | 8 | 60845364 | frameshift variant | -/C | delins | 1 | |||||
rs1555087619 | 11 | 72308526 | splice donor variant | C/T | snv | 1 | |||||
rs1554787366 | 9 | 114167926 | frameshift variant | T/- | del | 1 | |||||
rs1554816354 | 9 | 114252621 | missense variant | G/A | snv | 1 | |||||
rs1555475250 | 16 | 3744921 | stop gained | G/A | snv | 1 | |||||
rs1555478331 | 16 | 3757990 | frameshift variant | T/- | del | 1 | |||||
rs1555393172 | 15 | 40936659 | frameshift variant | CGGACGACGGC/- | delins | 1 | |||||
rs981267400 | 5 | 13871562 | splice donor variant | A/G | snv | 4.0E-06 | 1 | ||||
rs1553173425 | 1 | 1338112 | frameshift variant | G/- | delins | 1 | |||||
rs1555984102 | 21 | 37490194 | frameshift variant | AT/- | delins | 1 | |||||
rs1556105875 | X | 68838630 | stop gained | A/T | snv | 1 | |||||
rs1555564006 | 17 | 44852563 | splice acceptor variant | C/T | snv | 1 | |||||
rs1555907749 | 22 | 41131612 | frameshift variant | -/T | delins | 1 |