Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121908080 | 0.925 | 0.120 | 15 | 68211698 | inframe deletion | ATG/- | delins | 2 | |||
rs154774633 | 0.925 | 0.120 | 15 | 68214387 | missense variant | A/G | snv | 2 | |||
rs154774636 | 0.925 | 0.120 | 15 | 68229568 | missense variant | C/G | snv | 2 | |||
rs768422260 | 0.925 | 0.120 | 15 | 68208280 | inframe deletion | GAG/- | delins | 1.4E-05 | 2 | ||
rs104894484 | 1.000 | 0.120 | 15 | 68211793 | missense variant | C/T | snv | 1 | |||
rs104894486 | 1.000 | 0.120 | 15 | 68209639 | stop gained | G/A;C | snv | 1 | |||
rs121908079 | 1.000 | 0.120 | 15 | 68211289 | inframe deletion | ATA/- | delins | 1 | |||
rs154774639 | 1.000 | 0.120 | 15 | 68208186 | frameshift variant | G/- | delins | 1.4E-05 | 1 | ||
rs1555438212 | 1.000 | 0.120 | 15 | 68208239 | stop gained | C/T | snv | 1 | |||
rs1555438229 | 1.000 | 0.120 | 15 | 68208288 | frameshift variant | -/AG | delins | 1 | |||
rs1555438234 | 1.000 | 0.120 | 15 | 68208306 | frameshift variant | TGTCC/- | delins | 1 | |||
rs1555438255 | 1.000 | 0.120 | 15 | 68208354 | missense variant | A/G | snv | 1 | |||
rs1555438411 | 1.000 | 0.120 | 15 | 68209637 | stop gained | C/T | snv | 1 | |||
rs1555438443 | 1.000 | 0.120 | 15 | 68209759 | stop gained | C/T | snv | 1 | |||
rs1555438614 | 1.000 | 0.120 | 15 | 68211262 | splice donor variant | C/A | snv | 1 | |||
rs1555440188 | 1.000 | 0.120 | 15 | 68229500 | splice donor variant | A/C | snv | 1 | |||
rs1555440206 | 1.000 | 0.120 | 15 | 68229584 | start lost | T/C | snv | 1 | |||
rs1567095153 | 1.000 | 0.120 | 15 | 68209749 | frameshift variant | -/G | delins | 1 | |||
rs1567096598 | 1.000 | 0.120 | 15 | 68214337 | missense variant | A/T | snv | 1 | |||
rs553192210 | 1.000 | 0.120 | 15 | 68214177 | non coding transcript exon variant | C/A;G | snv | 2.8E-05 | 1 | ||
rs786205065 | 1.000 | 0.120 | 15 | 68229578 | frameshift variant | C/- | delins | 1 | |||
rs786205066 | 1.000 | 0.120 | 15 | 68211258 | splice region variant | C/A | snv | 1 | |||
rs786205067 | 1.000 | 0.120 | 15 | 68214315 | frameshift variant | -/CGTT | delins | 1 | |||
rs919850756 | 1.000 | 0.120 | 15 | 68211685 | missense variant | G/A | snv | 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 |