Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs62625308 | 0.851 | 0.200 | 17 | 43091924 | stop gained | G/A;C | snv | 1.2E-05 | 8 | ||
rs80356962 | 0.807 | 0.200 | 17 | 43047666 | stop gained | C/G;T | snv | 4.0E-06 | 7.0E-06 | 8 | |
rs80357086 | 0.851 | 0.200 | 17 | 43106480 | stop gained | A/G;T | snv | 8 | |||
rs80357115 | 0.790 | 0.200 | 17 | 43092597 | stop gained | A/C;T | snv | 8 | |||
rs80357750 | 0.790 | 0.200 | 17 | 43115759 | frameshift variant | G/- | delins | 8 | |||
rs80357906 | 0.827 | 0.200 | 17 | 43057062 | frameshift variant | -/G | delins | 1.8E-04 | 8 | ||
rs45553935 | 0.851 | 0.200 | 17 | 43057122 | missense variant | A/C;G;T | snv | 7 | |||
rs80356913 | 0.851 | 0.200 | 17 | 43106456 | missense variant | C/A;G;T | snv | 7 | |||
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 | ||
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 | |||
rs1800747 | 0.882 | 0.200 | 17 | 43063952 | splice acceptor variant | C/A;G;T | snv | 5 | |||
rs80187739 | 0.851 | 0.200 | 17 | 43067608 | missense variant | C/A;G;T | snv | 1.2E-05 | 5 |