| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs137853229 | 0.851 | 0.240 | 8 | 144513412 | stop gained | G/A | snv | 1.2E-04 | 8.4E-05 | 5 | |
| rs386833845 | 0.827 | 0.240 | 8 | 144514983 | frameshift variant | A/- | del | 2.4E-04 | 3.3E-04 | 5 | |
| rs1085307090 | 0.882 | 0.240 | 8 | 144515325 | splice donor variant | C/A | snv | 3 | |||
| rs117642173 | 0.925 | 0.160 | 8 | 144515243 | splice acceptor variant | C/T | snv | 3.6E-05 | 4.9E-05 | 2 | |
| rs386833849 | 0.925 | 0.240 | 8 | 144513713 | splice acceptor variant | C/A;G;T | snv | 2 | |||
| rs752729755 | 0.925 | 0.160 | 8 | 144513109 | frameshift variant | AT/- | del | 2.8E-05 | 2 | ||
| rs760363252 | 0.925 | 0.160 | 8 | 144514441 | splice donor variant | C/T | snv | 4.1E-06 | 2 | ||
| rs1554896308 | 1.000 | 0.120 | 8 | 144512010 | frameshift variant | -/TGCTGCGCTCCTCATCCTGC | ins | 1 | |||
| rs1554898257 | 1.000 | 0.120 | 8 | 144513324 | frameshift variant | ACAGCCCGCACATCTGGCCGGT/- | del | 1 | |||
| rs1564804479 | 1.000 | 0.120 | 8 | 144515873 | stop gained | C/T | snv | 1 | |||
| rs786200887 | 1.000 | 0.120 | 8 | 144514490 | frameshift variant | AGGCCGC/- | delins | 1 | |||
| rs786200890 | 1.000 | 0.120 | 8 | 144514062 | inframe deletion | CTGTGA/- | del | 1 |