| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs61750420 | 0.689 | 0.480 | 7 | 92501562 | missense variant | C/T | snv | 3.2E-04 | 3.5E-04 | 52 | |
| rs61752129 | 0.776 | 0.240 | 22 | 18078405 | frameshift variant | C/-;CC | delins | 14 | |||
| rs61750428 | 0.882 | 0.360 | 7 | 92494331 | stop gained | G/A;T | snv | 8.0E-06; 4.0E-06 | 4 | ||
| rs61750415 | 0.882 | 0.360 | 7 | 92503169 | frameshift variant | -/A | delins | 5.0E-04 | 5.1E-04 | 4 | |
| rs61750435 | 0.882 | 0.080 | 1 | 2406791 | frameshift variant | -/T | delins | 2.1E-05 | 7.7E-05 | 4 | |
| rs61752093 | 0.882 | 0.080 | 1 | 2406581 | frameshift variant | AG/- | del | 6.3E-05 | 4 | ||
| rs62641228 | 0.882 | 0.080 | 22 | 18079935 | missense variant | C/G;T | snv | 7.2E-05 | 4 | ||
| rs267608216 | 0.882 | 0.080 | 6 | 42969714 | frameshift variant | CCAGGCCT/- | delins | 8.0E-05 | 2.1E-05 | 4 | |
| rs267608241 | 0.882 | 0.080 | 6 | 42965712 | stop gained | G/A | snv | 2.0E-05; 4.0E-06 | 4 | ||
| rs61753230 | 0.882 | 0.240 | 6 | 42965262 | missense variant | G/A | snv | 4 | |||
| rs149806989 | 0.925 | 0.240 | 7 | 92517968 | stop gained | G/A | snv | 8.0E-06 | 3 | ||
| rs398123408 | 0.925 | 0.240 | 7 | 92504842 | protein altering variant | -/TCCACACTG | delins | 1.2E-05 | 2.1E-05 | 3 | |
| rs144259891 | 0.925 | 0.080 | 17 | 35577895 | splice donor variant | C/A;T | snv | 2.4E-05; 4.0E-06 | 3 | ||
| rs398123301 | 0.925 | 0.080 | 17 | 35575973 | frameshift variant | AG/- | delins | 3 | |||
| rs61752100 | 0.925 | 0.080 | 17 | 35577447 | frameshift variant | CTTT/- | delins | 4.4E-05 | 2.1E-05 | 3 | |
| rs61752106 | 0.925 | 0.080 | 17 | 35577093 | stop gained | G/A;T | snv | 2.8E-05; 8.0E-06 | 3 | ||
| rs61752107 | 0.925 | 0.080 | 17 | 35576128 | frameshift variant | -/GGCA | delins | 1.6E-05 | 2.8E-05 | 3 | |
| rs61750426 | 0.925 | 0.240 | 7 | 92494497 | frameshift variant | T/-;TTT | delins | 3.6E-05 | 5.6E-05 | 3 | |
| rs61752123 | 0.925 | 0.080 | 8 | 76983824 | stop gained | G/A;C | snv | 1.4E-04; 4.0E-06 | 3 | ||
| rs61752124 | 0.925 | 0.080 | 8 | 76983806 | stop gained | G/A;T | snv | 8.0E-06; 4.0E-06 | 3 | ||
| rs764771123 | 0.925 | 0.080 | 8 | 76983834 | frameshift variant | TGCCACC/- | delins | 3.2E-05 | 7.0E-06 | 3 | |
| rs1491384052 | 0.925 | 0.080 | 6 | 42978640 | frameshift variant | -/A | delins | 3 | |||
| rs267608240 | 0.925 | 0.080 | 6 | 42966044 | missense variant | C/T | snv | 1.6E-05 | 7.0E-06 | 3 | |
| rs61752140 | 0.925 | 0.080 | 6 | 42978981 | missense variant | A/G | snv | 3 | |||
| rs61750417 | 1.000 | 0.240 | 7 | 92501938 | stop gained | G/A;C | snv | 2.0E-05 | 2 |