Source: ALL
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs386834034 | 0.790 | 0.240 | 1 | 46194853 | stop gained | G/A;T | snv | 2.0E-05 | 9 | ||
| rs267606960 | 0.827 | 0.160 | 1 | 46192168 | missense variant | C/T | snv | 2.4E-05 | 4.2E-05 | 5 | |
| rs28940869 | 0.827 | 0.160 | 1 | 46192397 | missense variant | G/A | snv | 3.5E-05 | 5 | ||
| rs138642840 | 0.851 | 0.120 | 1 | 46192097 | splice donor variant | C/A;T | snv | 6.2E-04 | 4 | ||
| rs190057175 | 0.851 | 0.120 | 1 | 46194860 | synonymous variant | G/A | snv | 4.0E-05 | 2.1E-05 | 4 | |
| rs386834024 | 0.851 | 0.120 | 1 | 46189457 | splice donor variant | C/A;G;T | snv | 8.0E-05; 8.0E-06 | 4 | ||
| rs386834039 | 0.851 | 0.120 | 1 | 46193874 | stop gained | G/A | snv | 7.0E-06 | 4 | ||
| rs193919336 | 0.882 | 0.160 | 1 | 46193873 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 3 | ||
| rs267606962 | 0.882 | 0.120 | 1 | 46189539 | missense variant | C/G;T | snv | 8.0E-06; 1.6E-05 | 3 | ||
| rs386834018 | 0.882 | 0.120 | 1 | 46189901 | stop gained | G/A;T | snv | 8.0E-06 | 3 | ||
| rs386834019 | 0.882 | 0.120 | 1 | 46189870 | stop gained | C/G;T | snv | 8.0E-06; 4.0E-06 | 3 | ||
| rs386834035 | 0.925 | 0.120 | 1 | 46194843 | splice donor variant | C/A;T | snv | 4.0E-06 | 2 |