Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs121918581 | 0.925 | 0.080 | 4 | 662188 | missense variant | C/T | snv | 3.0E-05 | 2 | ||
| rs201541131 | 0.925 | 0.080 | 4 | 662197 | missense variant | C/T | snv | 1.5E-05 | 7.0E-06 | 2 | |
| rs727504075 | 0.925 | 0.080 | 4 | 664945 | splice donor variant | G/A;T | snv | 7.2E-05; 4.0E-06 | 2 | ||
| rs869312177 | 0.925 | 0.080 | 4 | 663772 | frameshift variant | CCTGAACATCTACCAGAACCTGAACCGGCGGCAGCACGAGCACGTGA/TCTGGG | delins | 2 | |||
| rs876657718 | 1.000 | 0.080 | 4 | 625917 | stop gained | C/A | snv | 9.0E-06 | 2 | ||
| rs121918579 | 0.925 | 0.080 | 4 | 654119 | stop gained | C/T | snv | 4.4E-05 | 5.6E-05 | 2 | |
| rs1360937549 | 1.000 | 0.080 | 4 | 660481 | frameshift variant | -/G | delins | 7.0E-06 | 1 | ||
| rs1553812554 | 1.000 | 0.080 | 4 | 660546 | missense variant | T/C | snv | 1 | |||
| rs527236088 | 0.882 | 0.080 | 4 | 660603 | missense variant | T/A | snv | 4.0E-06 | 7.0E-06 | 1 | |
| rs527236089 | 1.000 | 0.080 | 4 | 659018 | splice donor variant | G/C | snv | 8.0E-06 | 1 | ||
| rs527236091 | 1.000 | 0.080 | 4 | 660575 | missense variant | G/A | snv | 1 | |||
| rs555600300 | 0.925 | 0.080 | 4 | 625925 | missense variant | G/A | snv | 6.0E-05 | 2.8E-05 | 1 | |
| rs760766981 | 0.925 | 0.080 | 4 | 660579 | missense variant | T/C | snv | 6.8E-05 | 2.1E-05 | 1 | |
| rs781003757 | 1.000 | 0.080 | 4 | 625627 | start lost | A/G | snv | 2.4E-05 | 1 | ||
| rs970990957 | 1.000 | 0.080 | 4 | 667898 | stop gained | C/T | snv | 1 | |||
| rs370898371 | 1.000 | 0.080 | 4 | 656295 | splice region variant | A/G;T | snv | 3.6E-05 | 1 | ||
| rs121918582 | 0.882 | 0.080 | 4 | 653912 | missense variant | C/A | snv | 1 | |||
| rs527236090 | 1.000 | 0.080 | 4 | 655939 | splice acceptor variant | G/C | snv | 1 | |||
| rs863223339 | 1.000 | 0.080 | 4 | 656244 | splice acceptor variant | G/A;T | snv | 4.0E-06 | 1 |