Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs886039506 | 0.882 | 0.160 | 9 | 127829770 | stop gained | G/A | snv | 3 | |||
rs267606783 | 0.925 | 0.120 | 9 | 127854354 | start lost | A/C;G | snv | 2 | |||
rs878853659 | 0.925 | 0.120 | 9 | 127843246 | splice acceptor variant | C/T | snv | 2 | |||
rs1085307433 | 0.925 | 0.160 | 9 | 127818734 | frameshift variant | C/- | delins | 2 | |||
rs121918400 | 0.925 | 0.120 | 9 | 127824960 | stop gained | G/A;C;T | snv | 8.0E-06 | 2 | ||
rs1554810378 | 0.925 | 0.120 | 9 | 127825722 | missense variant | A/G | snv | 2 | |||
rs373842615 | 0.925 | 0.120 | 9 | 127819662 | splice acceptor variant | T/C | snv | 4.2E-06 | 2 | ||
rs863223538 | 0.925 | 0.120 | 9 | 127818220 | missense variant | C/T | snv | 4.0E-06 | 2 | ||
rs1060501410 | 0.925 | 0.120 | 9 | 127824800 | missense variant | C/T | snv | 2 | |||
rs1329127701 | 0.925 | 0.120 | 9 | 127824304 | splice region variant | C/T | snv | 2 | |||
rs1554810408 | 0.925 | 0.120 | 9 | 127825792 | inframe deletion | CGCCACTCGAGC/- | delins | 2 | |||
rs878853657 | 0.925 | 0.120 | 9 | 127826586 | missense variant | C/G | snv | 2 | |||
rs886039505 | 0.925 | 0.120 | 9 | 127829686 | splice donor variant | C/T | snv | 2 | |||
rs1060501408 | 1.000 | 0.120 | 9 | 127854482 | 5 prime UTR variant | G/A | snv | 1 | |||
rs1060501418 | 1.000 | 0.120 | 9 | 127854355 | start lost | T/C;G | snv | 1 | |||
rs1252348200 | 1.000 | 0.120 | 9 | 127843168 | missense variant | C/A;T | snv | 4.0E-06 | 1 | ||
rs1554812253 | 1.000 | 0.120 | 9 | 127843093 | splice donor variant | C/T | snv | 1 | |||
rs1564466414 | 1.000 | 0.120 | 9 | 127854333 | missense variant | A/G | snv | 1 | |||
rs369596004 | 1.000 | 0.120 | 9 | 127843194 | frameshift variant | C/- | delins | 1 | |||
rs755348996 | 1.000 | 0.120 | 9 | 127843094 | splice region variant | C/A;T | snv | 8.0E-06; 1.6E-05 | 1 | ||
rs773334730 | 1.000 | 0.120 | 9 | 127843248 | splice region variant | G/A;C | snv | 4.0E-06 | 1 | ||
rs878853658 | 1.000 | 0.120 | 9 | 127854289 | frameshift variant | T/- | delins | 1 | |||
rs1057521648 | 1.000 | 0.120 | 9 | 127818341 | stop gained | G/A | snv | 1 | |||
rs1060501412 | 1.000 | 0.120 | 9 | 127818720 | frameshift variant | ACAAAGCTCT/- | del | 1 | |||
rs1060501422 | 1.000 | 0.120 | 9 | 127819973 | frameshift variant | C/- | delins | 1 |