Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs746482788 | 1.000 | 0.080 | 11 | 71442258 | splice donor variant | TACCTGCAGGAGTCACGGCCCCCTCCTGGATGC/- | delins | 4.4E-05 | 2.1E-05 | 1 | |
| rs104886033 | 0.827 | 0.160 | 11 | 71444952 | start lost | T/C | snv | 1.2E-05; 4.0E-06 | 3.5E-05 | 10 | |
| rs121909766 | 1.000 | 0.080 | 11 | 71437936 | missense variant | T/C | snv | 1 | |||
| rs1555146618 | 1.000 | 0.080 | 11 | 71442355 | splice acceptor variant | T/C | snv | 1 | |||
| rs775575609 | 1.000 | 0.080 | 11 | 71441442 | splice acceptor variant | T/C | snv | 8.3E-06 | 1 | ||
| rs28938174 | 1.000 | 0.080 | 11 | 71442319 | missense variant | T/A;C | snv | 4.0E-06; 6.8E-05; 4.0E-06 | 1 | ||
| rs786200926 | 1.000 | 0.080 | 11 | 71442260 | splice region variant | T/A | snv | 7.0E-06 | 1 | ||
| rs1555146023 | 1.000 | 0.080 | 11 | 71438907 | frameshift variant | T/- | delins | 1 | |||
| rs1057516375 | 1.000 | 0.080 | 11 | 71435822 | stop gained | G/T | snv | 1 | |||
| rs1555145605 | 1.000 | 0.080 | 11 | 71435657 | stop gained | G/T | snv | 1 | |||
| rs749076525 | 1.000 | 0.080 | 11 | 71439059 | stop gained | G/T | snv | 8.0E-06 | 7.0E-06 | 1 | |
| rs1555145867 | 1.000 | 0.080 | 11 | 71437860 | stop gained | G/C | snv | 1 | |||
| rs766495775 | 1.000 | 0.080 | 11 | 71437914 | missense variant | G/A;T | snv | 2.0E-05; 1.2E-05 | 1 | ||
| rs769639753 | 1.000 | 0.080 | 11 | 71437881 | stop gained | G/A;T | snv | 4.0E-06 | 1 | ||
| rs61757582 | 1.000 | 0.080 | 11 | 71435593 | missense variant | G/A;C;T | snv | 3.7E-05; 4.1E-06 | 1 | ||
| rs1057516610 | 1.000 | 0.080 | 11 | 71435812 | stop gained | G/A;C | snv | 4.2E-06 | 1 | ||
| rs143312232 | 1.000 | 0.080 | 11 | 71441392 | missense variant | G/A;C | snv | 4.0E-06; 9.6E-05 | 1 | ||
| rs80338855 | 1.000 | 0.080 | 11 | 71441347 | missense variant | G/A;C | snv | 4.8E-05; 4.0E-06 | 1 | ||
| rs80338858 | 1.000 | 0.080 | 11 | 71437869 | missense variant | G/A;C | snv | 1.2E-04; 2.0E-05 | 1 | ||
| rs80338853 | 1.000 | 0.080 | 11 | 71444036 | missense variant | G/A | snv | 4.0E-05 | 9.1E-05 | 2 | |
| rs104886035 | 1.000 | 0.080 | 11 | 71444163 | missense variant | G/A | snv | 7.0E-06 | 1 | ||
| rs104886039 | 1.000 | 0.080 | 11 | 71444022 | stop gained | G/A | snv | 3.6E-05 | 1.4E-05 | 1 | |
| rs1057516977 | 1.000 | 0.080 | 11 | 71444937 | stop gained | G/A | snv | 4.0E-06 | 1 | ||
| rs121909765 | 1.000 | 0.080 | 11 | 71437909 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 1 | |
| rs535561852 | 1.000 | 0.080 | 11 | 71435476 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 | 1 |