| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1114167448 | 1.000 | 2 | 231276776 | splice donor variant | G/C | snv | 1 | ||||
| rs1114167449 | 1.000 | 2 | 231282066 | missense variant | C/T | snv | 4.0E-06 | 1 | |||
| rs1553611393 | 1.000 | 2 | 231272951 | splice donor variant | CGCCTCTACCTTGCCCAGAACACAAAGGTGCTGCAGATGCTGGAGGGAAGGCTGAAGGAGGAGGACAAGGATATCATCACCAGGGAGAATGTTCTTGGGGCCCTGCAGAAGTTCAGTCTCAGGT/- | delins | 1 | ||||
| rs372770167 | 1.000 | 2 | 231214912 | stop gained | C/A;T | snv | 2.4E-05; 1.2E-05 | 1 | |||
| rs750247691 | 1.000 | 2 | 231214858 | missense variant | G/A | snv | 1.6E-05 | 2.1E-05 | 1 | ||
| rs753432312 | 1.000 | 2 | 231276637 | missense variant | C/T | snv | 8.0E-06 | 1 | |||
| rs759799287 | 1.000 | 2 | 231262306 | missense variant | C/A;T | snv | 4.0E-06; 5.2E-05 | 1 | |||
| rs766572502 | 1.000 | 2 | 231240041 | splice region variant | G/A | snv | 8.1E-06 | 7.0E-06 | 1 | ||
| rs780265931 | 1.000 | 2 | 231276775 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 1 |