Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs150681845 | 1.000 | 0.080 | 4 | 127687772 | missense variant | G/A | snv | 2.6E-03 | 1.8E-03 | 2 | |
rs1057518817 | 1.000 | 0.080 | 9 | 35805944 | frameshift variant | GTGGTCCTTTC/- | del | 4 | |||
rs757744435 | 1.000 | 0.080 | 9 | 35794009 | missense variant | A/G;T | snv | 4 | |||
rs869025316 | 0.925 | 0.160 | 2 | 209918616 | missense variant | C/T | snv | 3.8E-05 | 2.8E-05 | 4 | |
rs869025317 | 0.925 | 0.160 | 2 | 209959707 | missense variant | G/C | snv | 4 | |||
rs869025318 | 0.925 | 0.160 | 2 | 209820379 | frameshift variant | A/- | delins | 4 | |||
rs869025319 | 0.925 | 0.160 | 2 | 209967586 | stop gained | T/A | snv | 4 | |||
rs587779388 | 1.000 | 1 | 113898755 | frameshift variant | GT/- | delins | 1.4E-04 | 1.5E-04 | 5 | ||
rs897535441 | 0.925 | 0.160 | 5 | 60887521 | splice acceptor variant | C/G;T | snv | 5 | |||
rs1135402758 | 1.000 | 9 | 131199023 | intron variant | T/- | delins | 5 | ||||
rs550423482 | 0.882 | 0.160 | 17 | 47946670 | missense variant | G/A;T | snv | 4.0E-05 | 5 | ||
rs748379243 | 0.882 | 0.200 | 5 | 60928961 | splice acceptor variant | T/A;C | snv | 4.0E-06 | 7.0E-06 | 6 | |
rs1057518782 | 0.925 | 0.120 | 19 | 7526579 | stop gained | C/G;T | snv | 7 | |||
rs1057518781 | 0.925 | 0.120 | 19 | 7527961 | splice donor variant | G/A;C | snv | 7 | |||
rs869312697 | 0.882 | 0.400 | 6 | 157207241 | stop gained | C/T | snv | 8 | |||
rs372392424 | 0.882 | 0.240 | 4 | 523849 | missense variant | C/T | snv | 6.7E-05 | 7.7E-05 | 8 | |
rs863223330 | 0.807 | 0.280 | 14 | 60648629 | splice donor variant | C/G | snv | 8 | |||
rs869312823 | 0.882 | 0.080 | 1 | 1806509 | missense variant | T/C | snv | 9 | |||
rs796051881 | 0.807 | 0.440 | 12 | 7202274 | frameshift variant | -/A | delins | 9 | |||
rs1426488816 | 0.827 | 0.160 | 9 | 26913948 | splice acceptor variant | C/T | snv | 8.0E-06 | 9 | ||
rs1344172059 | 0.882 | 0.080 | 11 | 17430838 | missense variant | C/T | snv | 7.0E-06 | 12 | ||
rs141322087 | 0.851 | 0.160 | 11 | 17404552 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 | 13 | |
rs869312824 | 0.827 | 0.200 | 1 | 1804565 | missense variant | A/G | snv | 13 | |||
rs1554032789 | 0.925 | 0.160 | 5 | 37048547 | missense variant | T/A | snv | 13 | |||
rs1555377415 | 0.827 | 0.200 | 14 | 77027274 | stop gained | G/C | snv | 18 |