Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs762902907 | 1.000 | 0.120 | 15 | 68211306 | frameshift variant | -/A | delins | 4.0E-06 | 7.0E-06 | 1 | |
rs1555438229 | 1.000 | 0.120 | 15 | 68208288 | frameshift variant | -/AG | delins | 1 | |||
rs786205067 | 1.000 | 0.120 | 15 | 68214315 | frameshift variant | -/CGTT | delins | 1 | |||
rs397515352 | 0.925 | 0.120 | 15 | 68211844 | frameshift variant | -/G | delins | 2.4E-05; 2.8E-05 | 3 | ||
rs1567095153 | 1.000 | 0.120 | 15 | 68209749 | frameshift variant | -/G | delins | 1 | |||
rs1555440188 | 1.000 | 0.120 | 15 | 68229500 | splice donor variant | A/C | snv | 1 | |||
rs154774633 | 0.925 | 0.120 | 15 | 68214387 | missense variant | A/G | snv | 2 | |||
rs1555438255 | 1.000 | 0.120 | 15 | 68208354 | missense variant | A/G | snv | 1 | |||
rs959199004 | 1.000 | 0.120 | 15 | 68208376 | missense variant | A/G | snv | 4.0E-06 | 1 | ||
rs1567096598 | 1.000 | 0.120 | 15 | 68214337 | missense variant | A/T | snv | 1 | |||
rs774543080 | 0.925 | 0.120 | 15 | 68211765 | frameshift variant | AG/- | delins | 8.0E-06 | 2 | ||
rs121908079 | 1.000 | 0.120 | 15 | 68211289 | inframe deletion | ATA/- | delins | 1 | |||
rs121908080 | 0.925 | 0.120 | 15 | 68211698 | inframe deletion | ATG/- | delins | 2 | |||
rs786205065 | 1.000 | 0.120 | 15 | 68229578 | frameshift variant | C/- | delins | 1 | |||
rs1555438614 | 1.000 | 0.120 | 15 | 68211262 | splice donor variant | C/A | snv | 1 | |||
rs786205066 | 1.000 | 0.120 | 15 | 68211258 | splice region variant | C/A | snv | 1 | |||
rs553192210 | 1.000 | 0.120 | 15 | 68214177 | non coding transcript exon variant | C/A;G | snv | 2.8E-05 | 1 | ||
rs104894483 | 0.925 | 0.120 | 15 | 68214373 | stop gained | C/A;G;T | snv | 6.8E-05; 2.6E-03; 2.0E-05; 4.0E-06 | 3 | ||
rs150363441 | 1.000 | 0.120 | 15 | 68208301 | missense variant | C/A;G;T | snv | 2.4E-05 | 1 | ||
rs374681194 | 1.000 | 0.120 | 15 | 68208321 | missense variant | C/A;T | snv | 2.0E-04 | 1 | ||
rs154774636 | 0.925 | 0.120 | 15 | 68229568 | missense variant | C/G | snv | 2 | |||
rs751486476 | 0.925 | 0.160 | 15 | 68218549 | missense variant | C/T | snv | 4.0E-06 | 2 | ||
rs756522171 | 1.000 | 0.120 | 15 | 68211674 | splice donor variant | C/T | snv | 1.2E-05 | 2 | ||
rs104894484 | 1.000 | 0.120 | 15 | 68211793 | missense variant | C/T | snv | 1 | |||
rs1381427322 | 1.000 | 0.120 | 15 | 68229502 | missense variant | C/T | snv | 1.2E-05 | 1 |