Source: ALL
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs397515866 | 1.000 | 0.160 | 15 | 48411000 | frameshift variant | AA/- | delins | 1 | |||
rs397515865 | 1.000 | 0.160 | 15 | 48411006 | missense variant | T/G | snv | 1 | |||
rs1060501033 | 0.925 | 0.160 | 15 | 48411045 | frameshift variant | A/- | del | 2 | |||
rs794728323 | 1.000 | 0.160 | 15 | 48411062 | frameshift variant | TT/-;T;TTT | delins | 1 | |||
rs1555393508 | 1.000 | 0.160 | 15 | 48411070 | stop gained | C/A;T | snv | 1 | |||
rs1555393510 | 1.000 | 0.160 | 15 | 48411076 | stop gained | G/A | snv | 1 | |||
rs1064794130 | 1.000 | 0.160 | 15 | 48411077 | frameshift variant | AAGTT/- | delins | 1 | |||
rs587782948 | 1.000 | 0.160 | 15 | 48411085 | stop gained | C/A | snv | 1 | |||
rs886038795 | 0.925 | 0.160 | 15 | 48411118 | stop gained | G/A | snv | 2 | |||
rs397515864 | 1.000 | 0.160 | 15 | 48411123 | stop gained | G/C | snv | 1 | |||
rs1555393525 | 1.000 | 0.160 | 15 | 48411127 | frameshift variant | A/- | del | 1 | |||
rs727504454 | 1.000 | 0.160 | 15 | 48411131 | inframe deletion | TCC/- | del | 1 | |||
rs1555393532 | 0.925 | 0.160 | 15 | 48411159 | missense variant | T/C;G | snv | 2 | |||
rs1555393538 | 1.000 | 0.160 | 15 | 48411189 | frameshift variant | -/T | delins | 1 | |||
rs193922246 | 1.000 | 0.160 | 15 | 48411189 | inframe deletion | TTTTAA/- | delins | 1 | |||
rs869025417 | 1.000 | 0.160 | 15 | 48411267 | missense variant | A/G | snv | 1 | |||
rs1555393551 | 0.925 | 0.160 | 15 | 48411271 | stop gained | C/A | snv | 2 | |||
rs1566888689 | 0.925 | 0.160 | 15 | 48411277 | frameshift variant | T/- | delins | 2 | |||
rs137854466 | 0.724 | 0.320 | 15 | 48411280 | stop gained | G/A;C | snv | 4.0E-05; 8.0E-06 | 23 | ||
rs267606796 | 1.000 | 0.160 | 15 | 48411338 | stop gained | C/T | snv | 1 | |||
rs397515861 | 1.000 | 0.160 | 15 | 48411339 | stop gained | C/T | snv | 1 | |||
rs727504651 | 1.000 | 0.160 | 15 | 48411340 | frameshift variant | AA/TCCT | delins | 1 | |||
rs1555393565 | 1.000 | 0.160 | 15 | 48411352 | frameshift variant | -/CA | delins | 1 | |||
rs193922243 | 0.925 | 0.160 | 15 | 48412564 | splice region variant | C/A;T | snv | 2 | |||
rs398122833 | 0.882 | 0.160 | 15 | 48412568 | splice donor variant | C/A;T | snv | 3 |