Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs397508838 | 0.925 | 17 | 43094416 | stop gained | C/T | snv | 7.0E-06 | 3 | |||
rs1555589094 | 0.925 | 17 | 43092822 | stop gained | A/T | snv | 2 | ||||
rs80357346 | 0.925 | 17 | 43094239 | stop gained | A/C | snv | 2 | ||||
rs273899698 | 0.851 | 0.080 | 17 | 43092434 | stop gained | C/A;T | snv | 5 | |||
rs80356880 | 0.851 | 0.080 | 17 | 43115750 | missense variant | G/C;T | snv | 5 | |||
rs80357202 | 0.851 | 0.080 | 17 | 43091477 | stop gained | C/A;G;T | snv | 2.4E-05 | 4 | ||
rs879255498 | 0.851 | 0.080 | 17 | 43094606 | stop gained | T/A;C | snv | 4 | |||
rs797045175 | 0.882 | 0.120 | 17 | 43095919 | splice acceptor variant | ACAC/- | delins | 3 | |||
rs80356898 | 0.752 | 0.200 | 17 | 43093844 | stop gained | G/A;C | snv | 2.8E-05; 4.0E-06 | 9 | ||
rs80356962 | 0.807 | 0.200 | 17 | 43047666 | stop gained | C/G;T | snv | 4.0E-06 | 7.0E-06 | 8 | |
rs80356978 | 0.827 | 0.200 | 17 | 43092809 | stop gained | C/A;T | snv | 7 | |||
rs80357123 | 0.827 | 0.200 | 17 | 43057078 | stop gained | G/A;C;T | snv | 1.2E-05 | 7 | ||
rs80358044 | 0.827 | 0.200 | 17 | 43074330 | splice donor variant | C/A;G;T | snv | 7 | |||
rs41293455 | 0.827 | 0.200 | 17 | 43082434 | stop gained | G/A;C | snv | 2.4E-05; 3.2E-05 | 6 | ||
rs62625307 | 0.827 | 0.200 | 17 | 43091933 | stop gained | G/A | snv | 4.0E-06 | 6 | ||
rs80356885 | 0.827 | 0.200 | 17 | 43074482 | stop gained | C/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 | |||
rs80357475 | 0.827 | 0.200 | 17 | 43124094 | start lost | C/A;G;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 | |||
rs80357350 | 0.827 | 0.200 | 17 | 43104928 | stop gained | G/A;C | snv | 5 | |||
rs80357669 | 0.851 | 0.200 | 17 | 43093074 | frameshift variant | G/- | delins | 5 | |||
rs45553935 | 0.851 | 0.200 | 17 | 43057122 | missense variant | A/C;G;T | snv | 4 |