Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1485445500 | 0.925 | 0.160 | 3 | 132708202 | stop gained | G/A | snv | 8.0E-06 | 7.0E-06 | 2 | |
rs1569162748 | 0.925 | 0.120 | X | 13767142 | frameshift variant | AAATT/- | del | 7 | |||
rs138890576 | 0.882 | 0.160 | 5 | 13844931 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 4 | |
rs770861172 | 0.827 | 0.160 | 2 | 195857582 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 6 | |
rs746242380 | 1.000 | 0.080 | 17 | 44902646 | frameshift variant | AGAG/-;AG;AGAGAG | delins | 1.6E-05 | 2.8E-05 | 4 | |
rs777516785 | 0.882 | 0.120 | X | 47242504 | synonymous variant | G/A | snv | 1.1E-05 | 5 | ||
rs528302390 | 0.776 | 0.120 | 7 | 47831214 | splice donor variant | AC/- | delins | 3.7E-04 | 5.0E-04 | 9 | |
rs886037834 | 0.827 | 0.160 | 7 | 47846960 | missense variant | C/G | snv | 7.0E-06 | 5 |