Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs63750349 | 0.851 | 0.200 | 17 | 45996638 | missense variant | C/G;T | snv | 4.0E-06 | 5 | ||
rs796051870 | 0.851 | 0.200 | 5 | 179833783 | splice donor variant | G/A | snv | 4.0E-06 | 7.0E-06 | 4 | |
rs121908627 | 0.925 | 0.160 | 9 | 36217448 | missense variant | C/A;T | snv | 8.9E-04; 1.7E-03 | 3 | ||
rs533610448 | 0.882 | 0.240 | 17 | 45983334 | missense variant | A/T | snv | 9.8E-05 | 6.3E-05 | 3 | |
rs75789129 | 0.925 | 0.160 | 7 | 117587820 | missense variant | A/G | snv | 3.5E-03 | 1.2E-03 | 2 | |
rs199877522 | 0.925 | 0.160 | 9 | 36227397 | missense variant | C/A;T | snv | 1.6E-04; 1.2E-05 | 2 | ||
rs62541771 | 0.925 | 0.160 | 9 | 36218224 | missense variant | G/A | snv | 8.7E-05 | 1.0E-04 | 2 | |
rs748949603 | 0.925 | 0.160 | 9 | 36219894 | missense variant | A/G | snv | 4.0E-06 | 2.8E-05 | 2 | |
rs757523840 | 0.925 | 0.160 | 9 | 36218272 | stop gained | G/C | snv | 8.0E-06 | 2.8E-05 | 2 | |
rs764698870 | 0.925 | 0.160 | 9 | 36222839 | missense variant | G/A;T | snv | 4.8E-05; 4.0E-06 | 2 | ||
rs28937594 | 0.925 | 0.160 | 9 | 36217399 | missense variant | A/G | snv | 4.0E-05 | 7.0E-06 | 2 | |
rs773729410 | 0.925 | 0.160 | 9 | 36236865 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 | 2 | |
rs779694939 | 0.925 | 0.160 | 9 | 36236954 | missense variant | A/G | snv | 2.4E-05 | 4.2E-05 | 2 | |
rs886043636 | 0.925 | 0.160 | 9 | 36229018 | splice donor variant | -/A | delins | 2 | |||
rs886044514 | 1.000 | 0.120 | 9 | 36249352 | stop gained | C/A | snv | 4.0E-06 | 7.0E-06 | 2 | |
rs200763627 | 0.925 | 0.160 | 9 | 36276927 | stop gained | A/G;T | snv | 8.1E-06; 2.0E-04 | 2 | ||
rs765747662 | 1.000 | 0.120 | 1 | 236757562 | missense variant | C/T | snv | 2.8E-05 | 2.1E-05 | 1 | |
rs1057516275 | 1.000 | 0.120 | 9 | 36227371 | frameshift variant | T/- | delins | 1 | |||
rs1057516364 | 1.000 | 0.120 | 9 | 36227267 | missense variant | A/G | snv | 1 | |||
rs1057516374 | 1.000 | 0.120 | 9 | 36233986 | stop gained | G/A | snv | 1 | |||
rs1057516597 | 1.000 | 0.120 | 9 | 36223372 | splice donor variant | C/- | delins | 1 | |||
rs1057516705 | 1.000 | 0.120 | 9 | 36223501 | splice acceptor variant | C/- | delins | 1 | |||
rs1057516798 | 1.000 | 0.120 | 9 | 36222887 | missense variant | A/G | snv | 7.0E-06 | 1 | ||
rs1057516906 | 1.000 | 0.120 | 9 | 36236946 | stop gained | G/A | snv | 4.0E-06 | 1 | ||
rs1057516915 | 1.000 | 0.120 | 9 | 36246209 | frameshift variant | TAGA/- | delins | 1 |