Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs200649783 | 0.827 | 0.120 | 2 | 19969556 | missense variant | C/A | snv | 2.4E-05 | 2.8E-05 | 5 | |
rs199952377 | 0.851 | 0.160 | 2 | 19941796 | stop gained | A/C | snv | 1.6E-04 | 1.9E-04 | 4 | |
rs1050086118 | 0.925 | 0.080 | 2 | 19946549 | stop gained | G/A;T | snv | 4.0E-06 | 2 | ||
rs1327489348 | 0.925 | 2 | 19962311 | frameshift variant | -/C | delins | 4.0E-06 | 2 | |||
rs1553317813 | 0.925 | 2 | 19941837 | splice acceptor variant | CCTTTAAAGACAAAAAAAAAGTTATGTTTCATT/- | delins | 2 | ||||
rs1558342399 | 0.925 | 0.080 | 2 | 19953834 | missense variant | C/T | snv | 2 | |||
rs199840434 | 0.925 | 2 | 19969494 | stop gained | G/A | snv | 1.6E-05 | 4.9E-05 | 2 | ||
rs371669862 | 0.925 | 2 | 19960553 | splice donor variant | C/A;G;T | snv | 8.0E-06 | 2 | |||
rs746128772 | 0.925 | 2 | 19914054 | synonymous variant | C/T | snv | 1.6E-05 | 2 | |||
rs767751856 | 0.925 | 2 | 19953853 | stop gained | G/A | snv | 8.0E-06 | 1.4E-05 | 2 | ||
rs1553324519 | 1.000 | 2 | 19982552 | intron variant | A/T | snv | 1 | ||||
rs387907085 | 1.000 | 2 | 19946495 | stop gained | G/A;C | snv | 1.6E-05; 8.0E-06 | 1 | |||
rs431905505 | 1.000 | 2 | 19973664 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 1 |