Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121908425 | 0.763 | 0.160 | 4 | 5748226 | stop gained | C/A;T | snv | 3.2E-05; 1.2E-05 | 14 | ||
rs755381180 | 0.882 | 0.160 | 4 | 5745303 | inframe deletion | AAG/- | delins | 1.6E-05 | 2.8E-05 | 3 | |
rs137852924 | 0.882 | 0.160 | 4 | 5640789 | stop gained | G/A | snv | 4.8E-05 | 3.5E-05 | 3 | |
rs1446547358 | 0.925 | 0.160 | 4 | 5798724 | stop gained | C/T | snv | 4.1E-06 | 1.4E-05 | 2 | |
rs1553873969 | 0.925 | 0.160 | 4 | 5748262 | frameshift variant | -/AGCC | delins | 2 | |||
rs753014919 | 0.925 | 0.160 | 4 | 5783682 | frameshift variant | C/- | del | 1.2E-04 | 2 | ||
rs1017946059 | 0.925 | 0.160 | 4 | 5731657 | missense variant | G/A | snv | 8.1E-06 | 7.0E-06 | 2 | |
rs527255616 | 0.925 | 0.160 | 4 | 5745274 | frameshift variant | -/T | delins | 1.6E-05; 4.0E-06 | 7.0E-06 | 2 | |
rs1221185345 | 0.925 | 0.160 | 4 | 5708363 | frameshift variant | GATCCCGGGG/- | delins | 2 | |||
rs137852927 | 0.925 | 0.160 | 4 | 5576247 | stop gained | G/A | snv | 8.0E-05 | 7.7E-05 | 2 | |
rs1553833239 | 0.925 | 0.160 | 4 | 5622993 | splice acceptor variant | T/C | snv | 2 | |||
rs200300612 | 0.925 | 0.160 | 4 | 5565256 | splice donor variant | A/G | snv | 3.2E-05 | 2.8E-05 | 2 | |
rs748820015 | 0.925 | 0.160 | 4 | 5694444 | stop gained | G/C;T | snv | 1.2E-05 | 2 | ||
rs751356206 | 0.925 | 0.160 | 4 | 5622775 | stop gained | G/A | snv | 4.0E-06 | 7.0E-06 | 2 | |
rs760382778 | 0.925 | 0.160 | 4 | 5618564 | stop gained | G/A | snv | 1.2E-05 | 2.1E-05 | 2 | |
rs774416029 | 0.925 | 0.160 | 4 | 5694392 | frameshift variant | -/A | delins | 4.0E-06 | 2 | ||
rs781096099 | 0.925 | 0.160 | 4 | 5694333 | splice donor variant | A/C;G | snv | 8.0E-06 | 2 | ||
rs1560340993 | 0.925 | 0.160 | 4 | 5753048 | frameshift variant | C/- | delins | 2 | |||
rs121908426 | 0.925 | 0.160 | 4 | 5745321 | missense variant | T/C | snv | 4.8E-05 | 7.0E-06 | 1 | |
rs1560121645 | 1.000 | 0.120 | 4 | 5562970 | stop gained | C/A | snv | 1 | |||
rs587776568 | 1.000 | 0.120 | 4 | 5562982 | frameshift variant | G/- | del | 1 |