Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs34612342 | 0.653 | 0.400 | 1 | 45332803 | missense variant | T/C | snv | 1.5E-03 | 1.6E-03 | 32 | |
rs36053993 | 0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 | 31 | |
rs2266780 | 0.827 | 0.280 | 1 | 171114102 | missense variant | A/G | snv | 0.15 | 0.14 | 9 | |
rs1057517457 | 0.851 | 0.120 | 1 | 45332804 | frameshift variant | GCCAGCCCAG/- | delins | 7.0E-06 | 6 | ||
rs730881833 | 0.827 | 0.160 | 1 | 45332242 | missense variant | C/A;T | snv | 4.0E-06; 2.8E-05 | 6 | ||
rs63750138 | 0.851 | 0.160 | 2 | 47800297 | missense variant | C/A;G;T | snv | 2.0E-05; 8.0E-06 | 6 | ||
rs63750934 | 0.882 | 0.160 | 2 | 47414368 | stop gained | C/T | snv | 5 | |||
rs55778204 | 0.925 | 0.160 | 2 | 47470993 | missense variant | A/G | snv | 2.3E-04 | 7.7E-05 | 2 | |
rs104893877 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 59 | |||
rs1801155 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 42 | |
rs1463038513 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 36 | |||
rs777980327 | 0.716 | 0.280 | 5 | 112837567 | missense variant | A/T | snv | 4.0E-06 | 7.0E-06 | 21 | |
rs1801166 | 0.732 | 0.200 | 5 | 112839543 | missense variant | G/C | snv | 4.4E-03 | 5.6E-03 | 17 | |
rs121913224 | 0.742 | 0.200 | 5 | 112839515 | frameshift variant | AAAGA/- | delins | 14 | |||
rs459552 | 0.752 | 0.320 | 5 | 112841059 | missense variant | T/A;G | snv | 0.79 | 14 | ||
rs11954856 | 0.732 | 0.200 | 5 | 112751630 | intron variant | T/G | snv | 0.54 | 12 | ||
rs121913331 | 0.851 | 0.120 | 5 | 112838934 | stop gained | C/A;T | snv | 8.0E-06 | 11 | ||
rs137854573 | 0.807 | 0.120 | 5 | 112828889 | stop gained | C/T | snv | 10 | |||
rs454886 | 0.763 | 0.280 | 5 | 112810420 | intron variant | A/G | snv | 0.26 | 10 | ||
rs786201856 | 0.776 | 0.200 | 5 | 112815507 | stop gained | C/T | snv | 10 | |||
rs137854575 | 0.807 | 0.120 | 5 | 112838399 | stop gained | C/A;G;T | snv | 4.7E-04 | 9 | ||
rs62619935 | 0.807 | 0.120 | 5 | 112792446 | stop gained | C/G;T | snv | 4.0E-06 | 8 | ||
rs145945630 | 0.827 | 0.120 | 5 | 112754960 | stop gained | C/T | snv | 2.4E-05 | 7 | ||
rs387906234 | 0.827 | 0.120 | 5 | 112839979 | frameshift variant | AGAG/-;AG | delins | 7 |