Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs104894760 | 0.851 | 0.080 | X | 153905816 | missense variant | C/T | snv | 1 | |||
rs878855334 | 1.000 | 0.080 | 12 | 88077224 | stop gained | T/A;C | snv | 4.2E-06 | 1 | ||
rs61893682 | 1.000 | 0.080 | 11 | 62150080 | missense variant | G/C | snv | 2.8E-03 | 2.5E-03 | 1 | |
rs1322951938 | 1.000 | 0.080 | 9 | 100293045 | splice donor variant | T/C;G | snv | 1 | |||
rs1425211517 | 1.000 | 0.080 | 9 | 100297017 | stop gained | C/T | snv | 1 | |||
rs150001738 | 1.000 | 0.080 | 9 | 100284591 | stop gained | A/G;T | snv | 3.1E-04 | 3.3E-04 | 1 | |
rs1564123602 | 1.000 | 0.080 | 9 | 100126450 | frameshift variant | -/CAGA | delins | 1 | |||
rs376879175 | 1.000 | 0.080 | 9 | 100293039 | stop gained | C/A;T | snv | 1.2E-05; 1.6E-05 | 1 | ||
rs878855332 | 1.000 | 0.080 | 9 | 100253088 | frameshift variant | G/- | delins | 1 | |||
rs878855333 | 1.000 | 0.080 | 9 | 100300600 | frameshift variant | A/- | delins | 1 | |||
rs1280238814 | 1.000 | 0.080 | 3 | 121772620 | stop gained | G/A | snv | 8.0E-06 | 1 | ||
rs727503968 | 1.000 | 0.080 | 3 | 121790112 | stop gained | G/A | snv | 5.6E-05 | 5.6E-05 | 1 | |
rs765263671 | 1.000 | 0.080 | 2 | 110161686 | stop gained | G/A | snv | 2.0E-05 | 1 | ||
rs201237799 | 1.000 | 0.080 | 3 | 132691199 | stop gained | G/A | snv | 4.0E-05 | 2.1E-05 | 1 | |
rs758238787 | 1.000 | 0.080 | 3 | 132687223 | stop gained | A/G;T | snv | 4.2E-06 | 1 | ||
rs771215577 | 1.000 | 0.080 | 3 | 132687195 | frameshift variant | -/T | delins | 4.1E-06 | 7.0E-06 | 1 | |
rs773521620 | 1.000 | 0.080 | 3 | 132722296 | stop gained | G/A;C | snv | 7.0E-06 | 1 | ||
rs1553773271 | 1.000 | 0.080 | 3 | 132699352 | splice donor variant | C/T | snv | 1 | |||
rs1560000875 | 1.000 | 0.080 | 3 | 132686280 | stop gained | G/C | snv | 1 | |||
rs1560002147 | 1.000 | 0.080 | 3 | 132688818 | frameshift variant | -/G | delins | 1 | |||
rs758498695 | 1.000 | 0.080 | 3 | 132713256 | missense variant | C/T | snv | 1.2E-05 | 1 | ||
rs1560017690 | 1.000 | 0.080 | 3 | 132719814 | frameshift variant | T/- | del | 1 | |||
rs1210874691 | 1.000 | 0.080 | 1 | 5927733 | stop gained | C/A | snv | 2.1E-05 | 1 | ||
rs398124289 | 1.000 | 0.080 | 1 | 5874973 | frameshift variant | -/GAGCG | delins | 1.2E-05 | 1 | ||
rs878855335 | 1.000 | 0.080 | 16 | 4335394 | splice donor variant | G/T | snv | 1 |