Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1946518 | 0.602 | 0.760 | 11 | 112164735 | intron variant | T/G | snv | 0.60 | 46 | ||
rs1040441824 | 0.882 | 0.200 | 11 | 112233502 | missense variant | A/G | snv | 2.1E-05 | 4 | ||
rs2396542 | 1.000 | 0.080 | 7 | 112465954 | intron variant | A/G | snv | 0.13 | 1 | ||
rs886039463 | 1.000 | 0.080 | 12 | 112489096 | missense variant | C/A | snv | 3 | |||
rs199618935 | 1.000 | 0.080 | 12 | 112506947 | 3 prime UTR variant | ATGATGATGATGATGATGATGATG/-;ATGATG;ATGATGATG;ATGATGATGATG;ATGATGATGATGATG;ATGATGATGATGATGATG;ATGATGATGATGATGATGATG;ATGATGATGATGATGATGATGATGATG;ATGATGATGATGATGATGATGATGATGATG;ATGATGATGATGATGATGATGATGATGATGATG;ATGATGATGATGATGATGATGATGATGATGATGATGATG | delins | 5.2E-02 | 1 | ||
rs145945630 | 0.827 | 0.120 | 5 | 112754960 | stop gained | C/T | snv | 2.4E-05 | 7 | ||
rs3783553 | 0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins | 26 | |||
rs587781392 | 0.827 | 0.120 | 5 | 112780895 | stop gained | C/G;T | snv | 7 | |||
rs62619935 | 0.807 | 0.120 | 5 | 112792446 | stop gained | C/G;T | snv | 4.0E-06 | 8 | ||
rs397515734 | 0.827 | 0.120 | 5 | 112792494 | stop gained | C/T | snv | 7 | |||
rs786201856 | 0.776 | 0.200 | 5 | 112815507 | stop gained | C/T | snv | 10 | |||
rs876660765 | 0.851 | 0.120 | 5 | 112815594 | splice donor variant | G/A | snv | 6 | |||
rs863225311 | 0.827 | 0.120 | 5 | 112819347 | splice region variant | A/C;G | snv | 7 | |||
rs137854573 | 0.807 | 0.120 | 5 | 112828889 | stop gained | C/T | snv | 10 | |||
rs397514032 | 1.000 | 0.080 | 5 | 112828923 | frameshift variant | A/- | delins | 1 | |||
rs1143633 | 0.752 | 0.280 | 2 | 112832890 | intron variant | C/G;T | snv | 11 | |||
rs3917356 | 0.882 | 0.160 | 2 | 112834786 | intron variant | C/T | snv | 0.39 | 4 | ||
rs1143627 | 0.605 | 0.760 | 2 | 112836810 | 5 prime UTR variant | G/A | snv | 0.56 | 47 | ||
rs137854575 | 0.807 | 0.120 | 5 | 112838399 | stop gained | C/A;G;T | snv | 4.7E-04 | 9 | ||
rs1554085355 | 0.851 | 0.120 | 5 | 112839461 | stop gained | T/A | snv | 5 | |||
rs10774671 | 0.732 | 0.480 | 12 | 112919388 | splice acceptor variant | G/A;C | snv | 0.67 | 14 | ||
rs290489 | 1.000 | 0.080 | 10 | 113147296 | intron variant | A/G | snv | 0.27 | 1 | ||
rs290487 | 0.776 | 0.280 | 10 | 113149972 | intron variant | C/T | snv | 0.16 | 10 | ||
rs290481 | 0.827 | 0.200 | 10 | 113164066 | intron variant | C/T | snv | 0.20 | 9 | ||
rs121913255 | 0.667 | 0.400 | 1 | 114713907 | missense variant | T/A;G | snv | 26 |