Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs563539429 | 0.851 | 0.240 | 9 | 136677540 | missense variant | C/A;G;T | snv | 4.1E-06; 8.1E-06; 1.5E-03 | 5 | ||
rs145975461 | 1.000 | 0.120 | 9 | 136673873 | missense variant | G/A;C | snv | 8.4E-04; 4.3E-06; 4.3E-06 | 1 | ||
rs138994150 | 1.000 | 0.120 | 9 | 136674750 | stop gained | T/A | snv | 4.0E-04 | 1.0E-03 | 1 | |
rs116807569 | 1.000 | 0.120 | 9 | 136674809 | splice acceptor variant | T/C | snv | 1.0E-04 | 4.2E-04 | 1 | |
rs200656731 | 1.000 | 0.120 | 9 | 136673876 | missense variant | G/A;C | snv | 7.3E-05; 2.6E-05 | 1 | ||
rs541978825 | 1.000 | 0.080 | 9 | 136676673 | missense variant | A/G | snv | 2.4E-05 | 1 | ||
rs104894093 | 1.000 | 0.120 | 9 | 136677537 | stop gained | G/A | snv | 1.6E-05 | 1.4E-05 | 1 | |
rs933422777 | 1.000 | 0.120 | 9 | 136676960 | splice donor variant | C/T | snv | 1.6E-05 | 1 | ||
rs121908926 | 1.000 | 0.120 | 9 | 136676603 | stop gained | G/A;T | snv | 1.6E-05 | 1 | ||
rs387906355 | 1.000 | 0.120 | 9 | 136677075 | frameshift variant | -/A | delins | 8.0E-06 | 7.7E-05 | 1 | |
rs764260414 | 0.925 | 0.120 | 9 | 136677440 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 | 2 | |
rs748157664 | 1.000 | 0.120 | 9 | 136676659 | stop gained | C/A;T | snv | 4.0E-06; 8.0E-06 | 1 | ||
rs886063722 | 1.000 | 0.080 | 9 | 136677118 | missense variant | G/A | snv | 4.0E-06 | 1 | ||
rs606231168 | 0.925 | 0.120 | 9 | 136676681 | splice acceptor variant | C/G | snv | 4.0E-06 | 7.0E-06 | 2 | |
rs104894100 | 1.000 | 0.120 | 9 | 136673906 | missense variant | A/G | snv | 1 | |||
rs1057517649 | 1.000 | 0.120 | 9 | 136677558 | splice acceptor variant | T/C | snv | 1 | |||
rs1057517650 | 1.000 | 0.120 | 9 | 136687175 | splice donor variant | C/T | snv | 1 | |||
rs1057517651 | 1.000 | 0.120 | 9 | 136677545 | stop gained | C/T | snv | 1 | |||
rs1057517653 | 1.000 | 0.120 | 9 | 136676635 | frameshift variant | C/- | delins | 1 | |||
rs1057517654 | 1.000 | 0.120 | 9 | 136674733 | splice donor variant | A/C | snv | 1 | |||
rs1057517655 | 1.000 | 0.120 | 9 | 136673913 | stop gained | G/A | snv | 1 | |||
rs1057517656 | 1.000 | 0.120 | 9 | 136673826 | inframe deletion | TCCTCATGG/- | delins | 1 | |||
rs1057518714 | 1.000 | 0.120 | 9 | 136676670 | stop gained | C/T | snv | 1 | |||
rs121908925 | 1.000 | 0.120 | 9 | 136674753 | stop gained | T/A | snv | 1 | |||
rs1564290079 | 1.000 | 0.120 | 9 | 136674770 | frameshift variant | GGAGA/- | delins | 1 |