Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs200832994 | 0.925 | 0.160 | 14 | 67807692 | stop gained | G/A | snv | 8.0E-06 | 2.1E-05 | 2 | |
rs370828455 | 0.925 | 0.160 | 14 | 67782971 | stop gained | C/T | snv | 4.0E-06 | 1.4E-05 | 2 | |
rs558285072 | 0.925 | 0.160 | 14 | 67777729 | stop gained | G/A;C | snv | 2.4E-05; 4.0E-06 | 2 | ||
rs767164213 | 0.925 | 0.160 | 14 | 67786112 | splice donor variant | A/C | snv | 1.6E-05 | 2 | ||
rs769329153 | 0.925 | 0.160 | 14 | 67809291 | splice acceptor variant | T/C | snv | 5.2E-05 | 2.1E-05 | 2 | |
rs774809466 | 0.925 | 0.160 | 14 | 67783020 | stop gained | G/A;T | snv | 4.0E-06 | 2 | ||
rs869312914 | 1.000 | 0.120 | 14 | 67752520 | stop gained | G/A | snv | 2 | |||
rs1049504575 | 1.000 | 0.120 | 14 | 67754069 | splice donor variant | A/T | snv | 4.0E-06 | 1.4E-05 | 1 | |
rs1057518016 | 1.000 | 0.120 | 14 | 67797750 | stop gained | G/A | snv | 4.0E-06 | 1 | ||
rs118204049 | 1.000 | 0.120 | 14 | 67782840 | stop gained | G/A | snv | 1.2E-05 | 2.8E-05 | 1 | |
rs118204050 | 1.000 | 0.120 | 14 | 67802241 | stop gained | G/A | snv | 1 | |||
rs1186788102 | 1.000 | 0.120 | 14 | 67790775 | splice acceptor variant | T/C | snv | 4.0E-06 | 1 | ||
rs1214483973 | 1.000 | 0.120 | 14 | 67775866 | stop gained | G/A | snv | 4.0E-06 | 1 | ||
rs1224762841 | 1.000 | 0.120 | 14 | 67806544 | splice donor variant | C/A | snv | 4.0E-06 | 7.0E-06 | 1 | |
rs137907310 | 1.000 | 0.120 | 14 | 67786113 | splice donor variant | C/A;T | snv | 2.4E-05 | 1 | ||
rs1470672632 | 1.000 | 0.120 | 14 | 67786235 | splice acceptor variant | T/C | snv | 8.1E-06 | 1 | ||
rs1555393005 | 1.000 | 0.120 | 14 | 67751050 | splice donor variant | A/G | snv | 1 | |||
rs1555393181 | 1.000 | 0.120 | 14 | 67752343 | splice donor variant | C/T | snv | 1 | |||
rs1555393338 | 1.000 | 0.120 | 14 | 67753706 | splice donor variant | C/T | snv | 1 | |||
rs1555393393 | 1.000 | 0.120 | 14 | 67754213 | splice acceptor variant | C/T | snv | 1 | |||
rs1555394824 | 1.000 | 0.120 | 14 | 67766231 | frameshift variant | -/A | delins | 1 | |||
rs1555395288 | 1.000 | 0.120 | 14 | 67769732 | splice acceptor variant | T/C | snv | 1 | |||
rs1555395524 | 1.000 | 0.120 | 14 | 67772046 | splice donor variant | C/A | snv | 1 | |||
rs1555395525 | 1.000 | 0.120 | 14 | 67772046 | splice donor variant | C/- | delins | 1 | |||
rs1555395560 | 1.000 | 0.120 | 14 | 67772212 | splice acceptor variant | T/C | snv | 1 |