Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs61750064 | 1.000 | 1 | 94042878 | frameshift variant | -/AC | ins | 8.0E-06 | 1 | |||
| rs886044760 | 1.000 | 1 | 94001107 | splice acceptor variant | TG/CT | mnv | 1 | ||||
| rs61751389 | 0.925 | 0.040 | 1 | 94007722 | frameshift variant | C/- | del | 2.8E-05 | 7.0E-06 | 4 | |
| rs764759172 | 0.925 | 0.040 | 1 | 94080692 | frameshift variant | G/- | del | 3 | |||
| rs281865377 | 0.807 | 0.080 | 1 | 94029447 | frameshift variant | G/-;GG | delins | 2.1E-05 | 6 | ||
| rs1553196583 | 0.925 | 0.040 | 1 | 94111453 | frameshift variant | T/- | delins | 2 | |||
| rs387906385 | 0.925 | 0.080 | 1 | 94042877 | frameshift variant | -/CA | delins | 7.0E-06 | 2 | ||
| rs61752410 | 0.925 | 0.080 | 1 | 94046949 | frameshift variant | C/- | delins | 4.0E-06 | 2 | ||
| rs886044735 | 0.925 | 0.080 | 1 | 94043433 | frameshift variant | T/- | delins | 2 | |||
| rs1553192715 | 1.000 | 1 | 94063250 | frameshift variant | AG/- | delins | 1 | ||||
| rs61750566 | 1.000 | 1 | 94019616 | frameshift variant | TG/- | delins | 1 | ||||
| rs62645948 | 1.000 | 1 | 94111443 | frameshift variant | -/T | delins | 1 | ||||
| rs63749083 | 1.000 | 1 | 94080539 | frameshift variant | ATAGTTATTGTCTT/- | delins | 1 | ||||
| rs886044736 | 1.000 | 1 | 94040117 | frameshift variant | -/TGCA | delins | 1 | ||||
| rs886044745 | 1.000 | 1 | 94023413 | frameshift variant | T/- | delins | 1 | ||||
| rs1800728 | 0.807 | 0.080 | 1 | 94011395 | intron variant | A/G | snv | 2.3E-04 | 3.0E-04 | 8 | |
| rs61751374 | 0.776 | 0.160 | 1 | 94043413 | missense variant | G/A | snv | 1.7E-03 | 1.7E-03 | 8 | |
| rs1800553 | 0.742 | 0.240 | 1 | 94008251 | missense variant | C/T | snv | 4.7E-03 | 3.0E-03 | 7 | |
| rs61750641 | 0.790 | 0.080 | 1 | 94005499 | missense variant | C/T | snv | 3.5E-04 | 4.7E-04 | 7 | |
| rs61750130 | 0.807 | 0.080 | 1 | 94031110 | missense variant | G/A | snv | 2.4E-04 | 2.3E-04 | 6 | |
| rs61751383 | 0.827 | 0.080 | 1 | 94005500 | stop gained | G/A | snv | 2.8E-05 | 1.4E-05 | 6 | |
| rs62645944 | 0.807 | 0.080 | 1 | 94098794 | splice region variant | C/A | snv | 8.8E-05 | 6.3E-05 | 6 | |
| rs76157638 | 0.851 | 0.080 | 1 | 94051698 | missense variant | C/G;T | snv | 4.4E-03; 4.0E-06 | 6 | ||
| rs398123339 | 0.851 | 0.120 | 1 | 94113068 | splice acceptor variant | T/C | snv | 4.0E-06 | 5 | ||
| rs61748558 | 0.827 | 0.080 | 1 | 94063224 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 5 |