Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs777601008 | 1.000 | 0.080 | 16 | 70268366 | missense variant | G/A | snv | 7.0E-06 | 1 | ||
rs387906792 | 1.000 | 0.080 | 16 | 70277088 | missense variant | T/A | snv | 1 | |||
rs1555542415 | 1.000 | 0.080 | 16 | 70276971 | missense variant | A/G | snv | 1 | |||
rs786205157 | 1.000 | 16 | 70277057 | missense variant | T/G | snv | 7.0E-06 | 1 | |||
rs1555539157 | 1.000 | 16 | 70252755 | missense variant | A/G | snv | 1 | ||||
rs138119149 | 0.807 | 0.280 | 6 | 44304512 | missense variant | G/A | snv | 2.1E-04 | 2.4E-04 | 9 | |
rs587777589 | 0.851 | 0.280 | 6 | 44311095 | frameshift variant | -/C | delins | 7 | |||
rs368934219 | 1.000 | 6 | 44303177 | splice acceptor variant | T/C | snv | 1.6E-05 | 1.4E-05 | 2 | ||
rs146512155 | 1.000 | 6 | 44305099 | missense variant | C/G;T | snv | 2.8E-04; 3.2E-05 | 1 | |||
rs387907061 | 1.000 | 6 | 44311507 | missense variant | A/C | snv | 1.2E-05 | 1.4E-05 | 1 | ||
rs587777592 | 1.000 | 6 | 44306367 | missense variant | C/T | snv | 1.6E-05 | 7.0E-06 | 1 | ||
rs587777590 | 1.000 | 6 | 44313175 | missense variant | A/C | snv | 1 | ||||
rs543267101 | 1.000 | 6 | 44300612 | missense variant | C/T | snv | 4.0E-05 | 4.2E-05 | 1 | ||
rs587777121 | 1.000 | 0.120 | 7 | 122077833 | splice donor variant | CTTAC/AA | delins | 1 | |||
rs587777126 | 1.000 | 0.120 | 7 | 122113140 | missense variant | A/C | snv | 4.0E-06 | 1 | ||
rs587777123 | 1.000 | 0.120 | 7 | 122115140 | frameshift variant | TG/- | del | 4.0E-06 | 1 | ||
rs587777122 | 1.000 | 0.120 | 7 | 122116653 | missense variant | T/C | snv | 1.2E-05 | 1 | ||
rs587777124 | 1.000 | 0.120 | 7 | 122091794 | stop gained | G/C | snv | 1 | |||
rs587777125 | 1.000 | 0.120 | 7 | 122133533 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 | 1 | |
rs387906333 | 1.000 | 0.120 | 7 | 122098496 | stop gained | CTTGTTTAC/- | del | 1 | |||
rs121434578 | 1.000 | 0.080 | 16 | 8768248 | missense variant | G/A | snv | 5 | |||
rs724159990 | 1.000 | 0.080 | 16 | 8768220 | missense variant | C/T | snv | 5 | |||
rs724159992 | 1.000 | 0.080 | 16 | 8750498 | missense variant | G/A | snv | 1.4E-05 | 5 | ||
rs1567310537 | 1.000 | 0.080 | 16 | 8764744 | missense variant | C/T | snv | 1 | |||
rs1567300736 | 1.000 | 0.080 | 16 | 8746099 | splice donor variant | G/A | snv | 1 |