Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs116128702 | 1.000 | 5 | 13923369 | stop gained | C/A;G;T | snv | 4.0E-06; 2.4E-05 | 4 | |||
| rs138890576 | 0.882 | 0.160 | 5 | 13844931 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 4 | |
| rs755407407 | 0.925 | 0.160 | 5 | 13762777 | missense variant | C/G | snv | 8.0E-06 | 7.0E-06 | 3 | |
| rs771663107 | 0.882 | 0.160 | 5 | 13865675 | stop gained | G/A | snv | 7.0E-06 | 3 | ||
| rs1060501460 | 1.000 | 0.160 | 5 | 13776447 | frameshift variant | A/- | delins | 1.2E-05 | 2 | ||
| rs1060501464 | 1.000 | 0.160 | 5 | 13735167 | stop gained | G/A | snv | 4.0E-06 | 2 | ||
| rs1273352530 | 1.000 | 0.160 | 5 | 13830621 | stop gained | G/A | snv | 2 | |||
| rs200901816 | 1.000 | 0.160 | 5 | 13701289 | stop gained | G/A | snv | 6.0E-05 | 6.3E-05 | 2 | |
| rs372118787 | 1.000 | 0.160 | 5 | 13717403 | stop gained | C/T | snv | 1.6E-05 | 2.1E-05 | 2 | |
| rs375053470 | 5 | 13794031 | stop gained | G/A | snv | 1.6E-05; 4.0E-06 | 1.4E-05 | 2 | |||
| rs397515540 | 1.000 | 0.160 | 5 | 13753290 | frameshift variant | A/- | del | 1.6E-04 | 2.1E-04 | 2 | |
| rs397515541 | 1.000 | 0.160 | 5 | 13902053 | missense variant | C/G | snv | 2.2E-05 | 1.4E-05 | 2 | |
| rs548521732 | 1.000 | 0.160 | 5 | 13839530 | splice acceptor variant | T/C | snv | 4.0E-05 | 2.8E-05 | 2 | |
| rs571919972 | 1.000 | 0.160 | 5 | 13758881 | stop gained | G/A | snv | 5.2E-05 | 4.2E-05 | 2 | |
| rs672601333 | 1.000 | 0.160 | 5 | 13894819 | frameshift variant | -/A | delins | 2 | |||
| rs745918507 | 1.000 | 0.160 | 5 | 13820424 | stop gained | G/A | snv | 1.2E-05 | 2.8E-05 | 2 | |
| rs753614861 | 1.000 | 0.160 | 5 | 13830026 | missense variant | C/T | snv | 2.0E-05 | 5.6E-05 | 2 | |
| rs755136231 | 1.000 | 0.160 | 5 | 13791995 | frameshift variant | TTTGGTTC/- | del | 2.0E-05 | 1.4E-05 | 2 | |
| rs776686983 | 1.000 | 0.160 | 5 | 13900241 | stop gained | G/A | snv | 8.0E-06 | 1.4E-05 | 2 | |
| rs781469274 | 5 | 13792128 | stop gained | G/A | snv | 3.2E-05 | 7.0E-06 | 2 | |||
| rs1060501454 | 5 | 13780960 | splice acceptor variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 1 | ||||
| rs1060501455 | 5 | 13788898 | stop gained | C/T | snv | 1 | |||||
| rs1060501456 | 5 | 13721014 | stop gained | G/A | snv | 7.0E-06 | 1 | ||||
| rs1060501457 | 5 | 13829680 | frameshift variant | CC/T | delins | 1 | |||||
| rs1060501458 | 5 | 13891020 | stop gained | G/A | snv | 7.0E-06 | 1 |