Source: ALL
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1131690965 | 3 | 10146511 | splice region variant | T/G | snv | 1 | |||||
rs5030830 | 0.925 | 0.160 | 3 | 10146526 | missense variant | T/C;G | snv | 3 | |||
rs1131690956 | 3 | 10146531 | frameshift variant | A/- | del | 1 | |||||
rs104893831 | 0.925 | 0.040 | 3 | 10146549 | missense variant | G/A;C;T | snv | 2.0E-05 | 4 | ||
rs1553619957 | 3 | 10146560 | frameshift variant | G/- | delins | 1 | |||||
rs104893830 | 0.925 | 0.160 | 3 | 10146561 | missense variant | G/C;T | snv | 3 | |||
rs1131690961 | 3 | 10146570 | missense variant | A/C | snv | 1 | |||||
rs5030833 | 0.925 | 0.160 | 3 | 10146580 | missense variant | T/C;G | snv | 4.0E-06 | 3 | ||
rs1131690955 | 3 | 10146591 | frameshift variant | -/A | ins | 1 | |||||
rs1553619976 | 0.925 | 0.160 | 3 | 10146593 | frameshift variant | -/A | delins | 3 | |||
rs587780077 | 1.000 | 0.120 | 3 | 10146618 | missense variant | G/A;C;T | snv | 2 | |||
rs869025655 | 0.925 | 0.160 | 3 | 10146625 | missense variant | T/C;G | snv | 3 | |||
rs1131690954 | 3 | 10146639 | splice region variant | A/G | snv | 1 | |||||
rs5030816 | 0.925 | 0.160 | 3 | 10149785 | splice acceptor variant | A/G;T | snv | 3 | |||
rs397516441 | 0.882 | 0.200 | 3 | 10149790 | missense variant | A/G | snv | 4 | |||
rs121913346 | 0.925 | 0.240 | 3 | 10149796 | missense variant | T/A;C | snv | 3 | |||
rs1553620312 | 3 | 10149803 | inframe insertion | -/ATGCCTCCAGGTTGTCCG | delins | 1 | |||||
rs5030818 | 0.882 | 0.280 | 3 | 10149804 | stop gained | C/G;T | snv | 4 | |||
rs730882035 | 0.807 | 0.200 | 3 | 10149805 | missense variant | G/A | snv | 7 | |||
rs5030622 | 0.925 | 0.160 | 3 | 10149809 | stop gained | C/A;G | snv | 3 | |||
rs1553620318 | 3 | 10149810 | missense variant | C/T | snv | 1 | |||||
rs104893825 | 1.000 | 0.120 | 3 | 10149819 | missense variant | G/T | snv | 2 | |||
rs5030820 | 0.827 | 0.280 | 3 | 10149822 | missense variant | C/G;T | snv | 8.0E-06 | 6 | ||
rs5030821 | 0.827 | 0.280 | 3 | 10149823 | missense variant | G/A;C;T | snv | 4.0E-06 | 8 | ||
rs1131690962 | 3 | 10149829 | missense variant | T/C | snv | 1 |