Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs786205567 | 0.925 | 0.120 | 3 | 129500070 | splice donor variant | T/C | snv | 5 | |||
rs886039814 | 0.807 | 0.200 | 4 | 39218060 | missense variant | C/G | snv | 13 | |||
rs118203918 | 0.882 | 0.160 | 6 | 53016099 | missense variant | C/T | snv | 4.0E-06 | 6 | ||
rs1057519335 | 0.925 | 0.040 | 9 | 35792968 | missense variant | T/A | snv | 5 | |||
rs1057518817 | 1.000 | 0.080 | 9 | 35805944 | frameshift variant | GTGGTCCTTTC/- | del | 4 | |||
rs757744435 | 1.000 | 0.080 | 9 | 35794009 | missense variant | A/G;T | snv | 4 | |||
rs786201032 | 0.925 | 0.120 | 11 | 299372 | missense variant | G/A | snv | 4 | |||
rs754279998 | 0.776 | 0.360 | 17 | 58208153 | inframe deletion | GAG/- | delins | 2.0E-05 | 1.4E-05 | 10 | |
rs886039795 | 0.851 | 0.160 | 17 | 7403143 | frameshift variant | CACTCAGAGCCTGGTAGTAAAA/- | del | 10 | |||
rs201037487 | 0.925 | 0.120 | 19 | 38407003 | stop gained | C/G;T | snv | 4.0E-06; 1.4E-04; 4.0E-06 | 4.9E-05 | 7 |