Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs80357123 | 0.827 | 0.200 | 17 | 43057078 | stop gained | G/A;C;T | snv | 1.2E-05 | 7 | ||
rs80357610 | 0.851 | 0.160 | 17 | 43094550 | frameshift variant | GT/- | delins | 7 | |||
rs80358044 | 0.827 | 0.200 | 17 | 43074330 | splice donor variant | C/A;G;T | snv | 7 | |||
rs886039920 | 0.807 | 0.160 | 17 | 43115755 | frameshift variant | ACAGG/- | delins | 7 | |||
rs80357914 | 0.827 | 0.200 | 17 | 43124028 | frameshift variant | CT/-;CTCT | delins | 7 | |||
rs397507419 | 0.807 | 0.200 | 13 | 32379886 | frameshift variant | AAAA/-;AAA;AAAAA | delins | 4.0E-06 | 7 | ||
rs80358981 | 0.827 | 0.200 | 13 | 32356550 | stop gained | C/T | snv | 2.0E-05 | 1.4E-05 | 7 | |
rs1800709 | 0.851 | 0.160 | 17 | 43093010 | missense variant | G/A | snv | 1.7E-03 | 1.4E-03 | 6 | |
rs41293455 | 0.827 | 0.200 | 17 | 43082434 | stop gained | G/A;C | snv | 2.4E-05; 3.2E-05 | 6 | ||
rs41293465 | 0.851 | 0.200 | 17 | 43045767 | stop gained | G/A | snv | 1.2E-05 | 6 | ||
rs80356885 | 0.827 | 0.200 | 17 | 43074482 | stop gained | C/T | snv | 6 | |||
rs80356991 | 0.882 | 0.200 | 17 | 43104136 | stop gained | C/A;G;T | snv | 8.4E-05 | 6 | ||
rs80357106 | 0.827 | 0.200 | 17 | 43092212 | stop gained | C/A | snv | 6 | |||
rs80357268 | 0.827 | 0.200 | 17 | 43045773 | missense variant | C/T | snv | 4.0E-06 | 6 | ||
rs80357327 | 0.827 | 0.200 | 17 | 43115730 | missense variant | A/C;G;T | snv | 6 | |||
rs80357440 | 0.827 | 0.200 | 17 | 43091638 | stop gained | G/A;C;T | snv | 4.0E-06 | 6 | ||
rs80357446 | 0.827 | 0.200 | 17 | 43115729 | missense variant | C/A;T | snv | 6 | |||
rs80358079 | 0.827 | 0.200 | 17 | 43057147 | intron variant | C/T | snv | 6 | |||
rs80358189 | 0.827 | 0.200 | 17 | 43074522 | splice acceptor variant | C/A;G;T | snv | 1.2E-05 | 6 | ||
rs886040898 | 0.827 | 0.200 | 17 | 43115743 | stop gained | A/C;T | snv | 6 | |||
rs80357475 | 0.827 | 0.200 | 17 | 43124094 | start lost | C/A;G;T | snv | 6 | |||
rs80359180 | 0.827 | 0.280 | 13 | 32380085 | stop gained | C/A;G;T | snv | 6 | |||
rs80359351 | 0.851 | 0.200 | 13 | 32337161 | frameshift variant | ACAA/- | delins | 2.1E-05 | 6 | ||
rs80357783 | 0.851 | 0.200 | 17 | 43124030 | frameshift variant | -/T | delins | 4.0E-06 | 6 | ||
rs1800747 | 0.882 | 0.200 | 17 | 43063952 | splice acceptor variant | C/A;G;T | snv | 5 |