| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs4073 | 0.566 | 0.800 | 4 | 73740307 | upstream gene variant | A/T | snv | 0.46 | 64 | ||
| rs11003125 | 0.790 | 0.480 | 10 | 52772254 | upstream gene variant | G/C | snv | 0.31 | 7 | ||
| rs4077468 | 0.925 | 0.200 | 1 | 205945629 | upstream gene variant | A/G | snv | 0.36 | 2 | ||
| rs504348 | 1.000 | 0.120 | 16 | 15949317 | upstream gene variant | C/G;T | snv | 1 | |||
| rs1263488842 | 1.000 | 0.120 | 7 | 117606669 | coding sequence variant | -/GTGGGATTCTTAATAG | delins | 7.0E-06 | 1 | ||
| rs193922521 | 1.000 | 0.120 | 7 | 117531003 | inframe insertion | -/TAT | delins | 1 | |||
| rs397508686 | 1.000 | 0.120 | 7 | 117531036 | inframe insertion | -/TAC | delins | 1 | |||
| rs113993960 | 0.827 | 0.160 | 7 | 117559591 | inframe deletion | CTT/- | delins | 8.0E-03 | 6 | ||
| rs121908745 | 0.925 | 0.160 | 7 | 117559587 | inframe deletion | ATC/- | delins | 2 | |||
| rs121908767 | 0.925 | 0.160 | 7 | 117610593 | inframe deletion | ATAGTG/- | delins | 2 | |||
| rs121908768 | 0.925 | 0.160 | 7 | 117540157 | inframe deletion | TCT/- | delins | 7.0E-05 | 2 | ||
| rs121908777 | 1.000 | 0.120 | 7 | 117591984 | inframe deletion | TGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCCAAA/-;TGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCCAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCCAAA | delins | 1 | |||
| rs1562914072 | 1.000 | 0.120 | 7 | 117610539 | inframe deletion | CTATAGCAG/- | delins | 1 | |||
| rs387906371 | 1.000 | 0.120 | 7 | 117531084 | inframe deletion | AATAGCTATGTTTAGTTT/- | del | 1 | |||
| rs397508141 | 1.000 | 0.120 | 7 | 117504297 | inframe deletion | TTGTCAGACATATACCAA/- | delins | 1 | |||
| rs1562929636 | 1.000 | 0.120 | 7 | 117667065 | stop lost | TGAAAGAGGAGACAGAAGAAGAGGTGCAAGATACAAGGCTTTAGAGAGCAGCATAAATGTTGACATGGGACATTTGCT/- | del | 1 | |||
| rs397508136 | 1.000 | 0.120 | 7 | 117480082 | start lost | CGAGAGACCATGCAGAGGTCGCC/- | delins | 1 | |||
| rs397508328 | 1.000 | 0.120 | 7 | 117480095 | start lost | A/G | snv | 2.0E-05 | 1 | ||
| rs397508476 | 1.000 | 0.120 | 7 | 117480096 | start lost | T/A;C;G | snv | 8.0E-06 | 1 | ||
| rs397508657 | 1.000 | 0.120 | 7 | 117480097 | start lost | G/A;T | snv | 1 | |||
| rs80224560 | 0.851 | 0.160 | 7 | 117602868 | splice region variant | G/A | snv | 7.6E-05 | 6.3E-05 | 4 | |
| rs121908796 | 0.925 | 0.160 | 7 | 117590444 | splice region variant | G/A;T | snv | 2.4E-05 | 2 | ||
| rs121908797 | 0.925 | 0.160 | 7 | 117606753 | splice region variant | G/A | snv | 4.0E-06 | 3.5E-05 | 2 | |
| rs200337193 | 0.925 | 0.160 | 7 | 117509031 | splice region variant | C/A;T | snv | 2.4E-05 | 2 | ||
| rs377729736 | 0.925 | 0.160 | 7 | 117531117 | splice region variant | A/G | snv | 2.5E-04 | 1.5E-04 | 2 |