Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs759191907 | 0.776 | 0.360 | 9 | 127825225 | splice region variant | A/G | snv | 8.0E-06 | 25 | ||
rs121907900 | 0.763 | 0.200 | 11 | 32392020 | missense variant | G/A | snv | 11 | |||
rs74315342 | 0.763 | 0.120 | 1 | 179561327 | missense variant | C/T | snv | 6.0E-04 | 5.3E-04 | 10 | |
rs71785313 | 0.882 | 0.120 | 22 | 36265996 | inframe deletion | TTATAA/- | delins | 5 | |||
rs386833945 | 0.882 | 0.080 | 19 | 35850987 | missense variant | G/A | snv | 4 | |||
rs749740335 | 0.925 | 0.080 | 1 | 179552620 | frameshift variant | TT/- | delins | 6.8E-05 | 9.1E-05 | 3 | |
rs587776577 | 0.925 | 0.160 | 11 | 32391968 | splice region variant | G/A | snv | 3 |