Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121912557 | 0.882 | 0.120 | 6 | 75857198 | missense variant | G/A | snv | 4 | |||
rs121908073 | 0.925 | 0.120 | 9 | 72694578 | stop gained | C/T | snv | 5.6E-05 | 3 | ||
rs202138002 | 0.882 | 0.120 | 12 | 132621535 | missense variant | G/A;C | snv | 1.8E-05 | 3 | ||
rs1057519601 | 0.925 | 0.120 | 17 | 18171764 | frameshift variant | G/CCAGGCCCGTGCAGCTC | delins | 2 | |||
rs1057519603 | 0.925 | 0.120 | 17 | 18126856 | missense variant | T/C | snv | 2 | |||
rs1057519604 | 0.925 | 0.120 | 17 | 18148937 | frameshift variant | G/- | delins | 2 | |||
rs1057519606 | 0.925 | 0.120 | 17 | 18159349 | splice donor variant | T/C | snv | 2 | |||
rs1057519607 | 0.925 | 0.120 | 17 | 18178843 | frameshift variant | -/C | delins | 2 | |||
rs1064797088 | 0.925 | 0.120 | 13 | 20189446 | missense variant | C/T | snv | 2 | |||
rs144446375 | 1.000 | 0.120 | 15 | 80881079 | missense variant | G/A | snv | 1.2E-05 | 4.2E-05 | 2 | |
rs387906893 | 0.925 | 0.120 | 12 | 122216808 | missense variant | G/A | snv | 2 | |||
rs397514599 | 0.925 | 0.120 | 2 | 55656148 | missense variant | T/C | snv | 2 | |||
rs431905513 | 0.925 | 0.120 | 9 | 115040947 | missense variant | T/A | snv | 2 | |||
rs587777040 | 0.925 | 0.120 | 2 | 85389806 | missense variant | T/C | snv | 4.0E-06 | 2 | ||
rs606231410 | 0.925 | 0.120 | 6 | 33189443 | missense variant | C/A;T | snv | 4.1E-06 | 2 | ||
rs752672077 | 0.925 | 0.120 | 11 | 118263084 | frameshift variant | T/- | del | 8.1E-04 | 6.8E-04 | 2 | |
rs776848994 | 1.000 | 0.120 | 13 | 20223480 | start lost | T/C | snv | 1.6E-05 | 4.2E-05 | 2 | |
rs780320724 | 0.925 | 0.120 | 13 | 20223362 | missense variant | G/A | snv | 5.6E-05 | 2 | ||
rs794729665 | 0.925 | 0.120 | 6 | 24178385 | missense variant | T/G | snv | 2 | |||
rs80356593 | 0.925 | 0.120 | 2 | 26477210 | stop gained | G/A | snv | 1.7E-04 | 3.5E-05 | 2 | |
rs878854415 | 0.925 | 0.120 | 17 | 18144495 | splice acceptor variant | A/G | snv | 2 | |||
rs879255246 | 0.925 | 0.120 | 2 | 26484568 | missense variant | C/G;T | snv | 4.0E-06 | 2 | ||
rs996035812 | 1.000 | 0.120 | 15 | 80925682 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 2 | |
rs117685390 | 1.000 | 0.120 | 13 | 20193170 | upstream gene variant | A/G | snv | 0.16 | 1 | ||
rs1321703512 | 1.000 | 0.120 | 5 | 102477684 | missense variant | A/G | snv | 1.2E-05 | 1 |