Source: ALL
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs372166543 | 0.925 | 0.080 | 3 | 48565160 | stop gained | C/A;G;T | snv | 4.0E-06; 2.0E-05 | 2 | ||
| rs143457874 | 0.925 | 0.080 | 3 | 48565636 | stop gained | G/A | snv | 4.0E-06 | 2.8E-05 | 2 | |
| rs121912828 | 1.000 | 0.080 | 3 | 48566281 | missense variant | A/T | snv | 7.0E-06 | 1 | ||
| rs142566193 | 0.925 | 0.080 | 3 | 48566303 | missense variant | G/A | snv | 1.1E-03 | 1.1E-03 | 2 | |
| rs1333259313 | 1.000 | 0.080 | 3 | 48566545 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 | 1 | |
| rs1064797081 | 1.000 | 0.080 | 3 | 48566686 | missense variant | C/T | snv | 1 | |||
| rs121912853 | 1.000 | 0.080 | 3 | 48566719 | stop gained | C/A;T | snv | 1.2E-05 | 1 | ||
| rs121912851 | 1.000 | 0.080 | 3 | 48567736 | missense variant | C/T | snv | 1.4E-05 | 1 | ||
| rs139318843 | 1.000 | 0.080 | 3 | 48568101 | missense variant | G/A | snv | 2.0E-05 | 4.9E-05 | 1 | |
| rs760891216 | 1.000 | 0.080 | 3 | 48568819 | missense variant | C/T | snv | 2.1E-05 | 7.0E-06 | 1 | |
| rs121912852 | 1.000 | 0.080 | 3 | 48570304 | stop gained | G/A | snv | 8.0E-06 | 1 | ||
| rs201728948 | 0.790 | 0.120 | 3 | 48570639 | splice region variant | C/T | snv | 3.0E-05 | 5.6E-05 | 7 | |
| rs121912839 | 0.882 | 0.120 | 3 | 48572712 | missense variant | C/T | snv | 3 | |||
| rs768128088 | 1.000 | 0.080 | 3 | 48573864 | frameshift variant | -/G | delins | 5.6E-05 | 1 | ||
| rs767539005 | 1.000 | 0.080 | 3 | 48574262 | splice region variant | C/T | snv | 5.6E-05 | 1 | ||
| rs755669902 | 1.000 | 0.080 | 3 | 48574549 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 | 1 | |
| rs121912855 | 0.851 | 0.200 | 3 | 48575218 | missense variant | G/A | snv | 2.0E-05 | 7.0E-06 | 16 | |
| rs121912849 | 1.000 | 0.080 | 3 | 48575236 | missense variant | G/A;C | snv | 8.0E-06; 4.0E-06 | 1 | ||
| rs121912838 | 1.000 | 0.080 | 3 | 48575428 | missense variant | C/T | snv | 2.5E-05 | 2.1E-05 | 1 | |
| rs762162799 | 0.776 | 0.120 | 3 | 48575437 | missense variant | C/G;T | snv | 8.6E-06; 4.3E-06; 3.0E-05 | 8 | ||
| rs766931219 | 1.000 | 0.080 | 3 | 48575445 | missense variant | C/G | snv | 4.2E-06 | 1 | ||
| rs121912843 | 0.925 | 0.080 | 3 | 48575475 | missense variant | C/T | snv | 4.1E-06 | 2 | ||
| rs1055680335 | 0.925 | 0.080 | 3 | 48575497 | missense variant | G/A;C | snv | 4.1E-06 | 2 | ||
| rs1368134215 | 0.925 | 0.080 | 3 | 48575673 | stop gained | G/A | snv | 2 | |||
| rs1064797080 | 1.000 | 0.080 | 3 | 48575678 | frameshift variant | TTCG/- | delins | 1 |