Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs80338856 | 1.000 | 0.080 | 11 | 71438986 | missense variant | G/A | snv | 9.9E-05 | 1.2E-04 | 1 | |
| rs80338853 | 1.000 | 0.080 | 11 | 71444036 | missense variant | G/A | snv | 4.0E-05 | 9.1E-05 | 2 | |
| rs777425801 | 1.000 | 0.080 | 11 | 71441413 | missense variant | C/T | snv | 8.8E-05 | 9.1E-05 | 1 | |
| rs80338859 | 1.000 | 0.080 | 11 | 71435827 | missense variant | C/A | snv | 1.7E-05 | 4.9E-05 | 1 | |
| rs104886033 | 0.827 | 0.160 | 11 | 71444952 | start lost | T/C | snv | 1.2E-05; 4.0E-06 | 3.5E-05 | 10 | |
| rs80338857 | 1.000 | 0.080 | 11 | 71438985 | missense variant | C/T | snv | 2.0E-05 | 3.5E-05 | 1 | |
| rs565893436 | 1.000 | 0.080 | 11 | 71437913 | missense variant | C/T | snv | 1.6E-05 | 2.8E-05 | 1 | |
| rs121909767 | 1.000 | 0.080 | 11 | 71444950 | start lost | C/T | snv | 4.0E-06 | 2.8E-05 | 1 | |
| rs746482788 | 1.000 | 0.080 | 11 | 71442258 | splice donor variant | TACCTGCAGGAGTCACGGCCCCCTCCTGGATGC/- | delins | 4.4E-05 | 2.1E-05 | 1 | |
| rs751604696 | 1.000 | 0.080 | 11 | 71435466 | missense variant | C/T | snv | 1.2E-05; 2.4E-05 | 2.1E-05 | 1 | |
| rs121912195 | 1.000 | 0.080 | 11 | 71442349 | missense variant | A/G | snv | 1.4E-05 | 1 | ||
| rs753960624 | 1.000 | 0.080 | 11 | 71441383 | missense variant | A/G | snv | 4.4E-05 | 1.4E-05 | 1 | |
| rs104886039 | 1.000 | 0.080 | 11 | 71444022 | stop gained | G/A | snv | 3.6E-05 | 1.4E-05 | 1 | |
| rs373306653 | 1.000 | 0.080 | 11 | 71435665 | missense variant | A/G | snv | 1.2E-05 | 1.4E-05 | 1 | |
| rs760428437 | 1.000 | 0.080 | 11 | 71435407 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 | 1 | |
| rs786200926 | 1.000 | 0.080 | 11 | 71442260 | splice region variant | T/A | snv | 7.0E-06 | 1 | ||
| rs104886035 | 1.000 | 0.080 | 11 | 71444163 | missense variant | G/A | snv | 7.0E-06 | 1 | ||
| rs1057516920 | 1.000 | 0.080 | 11 | 71438877 | splice donor variant | A/T | snv | 7.0E-06 | 1 | ||
| rs398123607 | 1.000 | 0.080 | 11 | 71437934 | missense variant | C/T | snv | 1.0E-04 | 7.0E-06 | 1 | |
| rs1046560765 | 1.000 | 0.080 | 11 | 71435581 | missense variant | A/G | snv | 4.1E-06 | 7.0E-06 | 1 | |
| rs1032242817 | 0.807 | 0.320 | 11 | 71441307 | stop gained | C/T | snv | 8.0E-06 | 7.0E-06 | 17 | |
| rs1471145742 | 1.000 | 0.080 | 11 | 71441226 | splice donor variant | C/A;G | snv | 7.0E-06 | 1 | ||
| rs121909764 | 1.000 | 0.080 | 11 | 71438980 | missense variant | C/T | snv | 3.2E-05 | 7.0E-06 | 1 | |
| rs1057517210 | 1.000 | 0.080 | 11 | 71439084 | splice acceptor variant | C/T | snv | 8.0E-06 | 7.0E-06 | 1 | |
| rs121909765 | 1.000 | 0.080 | 11 | 71437909 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 1 |