Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121908676 | 1.000 | 0.080 | 14 | 22813398 | start lost | T/G | snv | 1 | |||
rs121908677 | 1.000 | 0.080 | 14 | 22813238 | missense variant | C/A | snv | 4.0E-06 | 1.4E-05 | 1 | |
rs121908678 | 1.000 | 0.080 | 14 | 22774371 | stop gained | G/A;T | snv | 4.0E-06; 2.0E-05 | 1 | ||
rs121908679 | 1.000 | 0.080 | 14 | 22778837 | stop gained | C/T | snv | 8.0E-06 | 7.0E-06 | 1 | |
rs1290445670 | 1.000 | 0.080 | 14 | 22773967 | frameshift variant | T/- | delins | 1.4E-05 | 1 | ||
rs146582474 | 1.000 | 0.080 | 14 | 22775938 | splice acceptor variant | T/A;C | snv | 4.3E-04 | 1 | ||
rs1555320639 | 1.000 | 0.080 | 14 | 22775442 | splice donor variant | A/- | del | 1 | |||
rs386833792 | 1.000 | 0.080 | 14 | 22813385 | missense variant | G/A | snv | 1 | |||
rs386833793 | 1.000 | 0.080 | 14 | 22813241 | missense variant | G/A | snv | 7.0E-06 | 1 | ||
rs386833794 | 1.000 | 0.080 | 14 | 22775531 | frameshift variant | GAAA/- | delins | 7.0E-06 | 1 | ||
rs386833795 | 1.000 | 0.080 | 14 | 22775526 | missense variant | C/T | snv | 4.0E-06 | 1 | ||
rs386833796 | 1.000 | 0.080 | 14 | 22813291 | inframe deletion | CCT/- | delins | 1 | |||
rs386833797 | 1.000 | 0.080 | 14 | 22775446 | missense variant | T/A | snv | 1 | |||
rs386833798 | 1.000 | 0.080 | 14 | 22774447 | stop gained | -/TAGTT | delins | 8.0E-06 | 7.0E-06 | 1 | |
rs386833799 | 1.000 | 0.080 | 14 | 22774441 | missense variant | G/T | snv | 4.0E-06 | 1 | ||
rs386833800 | 1.000 | 0.080 | 14 | 22774411 | frameshift variant | AAAG/- | delins | 2.8E-05 | 1 | ||
rs386833801 | 1.000 | 0.080 | 14 | 22774100 | frameshift variant | G/- | delins | 1 | |||
rs386833802 | 1.000 | 0.080 | 14 | 22774089 | missense variant | A/C;G | snv | 1 | |||
rs386833803 | 1.000 | 0.080 | 14 | 22774018 | frameshift variant | G/- | delins | 1 | |||
rs386833804 | 1.000 | 0.080 | 14 | 22773991 | stop gained | G/C;T | snv | 8.0E-06; 4.0E-06 | 1 | ||
rs386833805 | 1.000 | 0.080 | 14 | 22773977 | frameshift variant | -/TGAT | delins | 4.0E-06; 4.0E-06; 8.0E-06; 1.4E-04 | 1 | ||
rs386833806 | 1.000 | 0.080 | 14 | 22773975 | frameshift variant | C/- | del | 1 | |||
rs386833807 | 1.000 | 0.080 | 14 | 22773960 | stop gained | G/A;C | snv | 1.6E-05 | 1 | ||
rs386833808 | 1.000 | 0.080 | 14 | 22773945 | stop gained | G/A;C | snv | 2.0E-05 | 1 | ||
rs386833809 | 1.000 | 0.080 | 14 | 22773686 | frameshift variant | C/- | del | 4.0E-06 | 2.1E-05 | 1 |