Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs74315370 | 0.882 | 0.080 | 1 | 17044825 | stop gained | G/A;C | snv | 1.6E-05 | 5 | ||
rs786201063 | 0.882 | 0.080 | 1 | 17033059 | splice donor variant | C/T | snv | 5 | |||
rs786201161 | 0.882 | 0.080 | 1 | 17024076 | splice acceptor variant | T/C | snv | 5 | |||
rs786202732 | 0.882 | 0.080 | 1 | 17024041 | missense variant | A/G | snv | 5 | |||
rs786203251 | 0.882 | 0.080 | 1 | 17022649 | missense variant | G/A;T | snv | 5 | |||
rs201286421 | 0.882 | 0.080 | 1 | 161323636 | stop gained | C/T | snv | 8.0E-06 | 2.1E-05 | 5 | |
rs1058930 | 0.882 | 0.040 | 10 | 95058362 | missense variant | G/A;C | snv | 1.0E-04; 3.7E-02 | 4 | ||
rs121913520 | 1.000 | 0.080 | 4 | 54727443 | missense variant | G/A | snv | 4 | |||
rs121913685 | 0.882 | 0.080 | 4 | 54727443 | inframe deletion | TTGTTG/-;TTG | delins | 4 | |||
rs267606600 | 1.000 | 0.120 | 17 | 31219018 | frameshift variant | AG/- | del | 1.4E-05 | 4 | ||
rs1312268347 | 0.925 | 0.120 | 9 | 133734172 | start lost | A/G | snv | 5.0E-06 | 4 | ||
rs1060503751 | 0.882 | 0.080 | 1 | 17028691 | frameshift variant | AG/- | delins | 4 | |||
rs1060503764 | 0.925 | 0.080 | 1 | 17022655 | frameshift variant | -/A | delins | 4 | |||
rs1131691055 | 0.925 | 0.080 | 1 | 17044889 | splice acceptor variant | C/A;T | snv | 4 | |||
rs200245469 | 0.925 | 0.080 | 1 | 17022724 | missense variant | G/A;C | snv | 4.0E-06 | 4 | ||
rs397516835 | 0.925 | 0.080 | 1 | 17024040 | missense variant | C/G;T | snv | 4 | |||
rs398123690 | 0.925 | 0.080 | 1 | 17044849 | frameshift variant | G/-;GGG | delins | 4 | |||
rs587782617 | 0.925 | 0.080 | 1 | 17023999 | frameshift variant | ATTTGTCTCC/- | del | 4 | |||
rs751000085 | 0.882 | 0.080 | 1 | 17028680 | stop gained | G/A;C | snv | 8.0E-06 | 4 | ||
rs762812025 | 0.882 | 0.080 | 1 | 17022689 | frameshift variant | CT/- | delins | 4.0E-06 | 4 | ||
rs786201316 | 0.925 | 0.080 | 1 | 17028712 | frameshift variant | T/CC | delins | 4 | |||
rs786202100 | 0.925 | 0.080 | 1 | 17044791 | frameshift variant | GAGGT/- | delins | 4 | |||
rs786203506 | 0.925 | 0.080 | 1 | 17028649 | stop gained | G/A;C;T | snv | 4 | |||
rs794728947 | 0.925 | 0.080 | 1 | 17033135 | frameshift variant | -/G | delins | 4.0E-06 | 4 | ||
rs878854575 | 0.882 | 0.080 | 1 | 17033075 | stop gained | T/A | snv | 4 |