Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs80338671 | 0.851 | 0.120 | 3 | 81642787 | missense variant | T/C;G | snv | 4.5E-04; 3.2E-04 | 5 | ||
rs201958741 | 0.851 | 0.120 | 3 | 81577999 | missense variant | C/T | snv | 3.3E-05 | 4.9E-05 | 4 | |
rs80338673 | 0.882 | 0.120 | 3 | 81577972 | missense variant | C/T | snv | 1.6E-05 | 4 | ||
rs137852886 | 0.925 | 0.080 | 3 | 81648876 | missense variant | A/G | snv | 4.4E-06 | 2.1E-05 | 3 | |
rs137852888 | 0.882 | 0.120 | 3 | 81577973 | stop gained | G/A;C | snv | 3.7E-05 | 5.6E-05 | 3 | |
rs192044702 | 0.882 | 0.120 | 3 | 81648854 | splice donor variant | A/G | snv | 8.9E-04 | 7.7E-04 | 3 | |
rs1057517315 | 0.925 | 0.080 | 3 | 81705469 | frameshift variant | T/- | delins | 2 | |||
rs137852887 | 0.925 | 0.080 | 3 | 81646403 | missense variant | A/T | snv | 1.4E-05 | 2 | ||
rs137852889 | 1.000 | 0.080 | 3 | 81537080 | missense variant | T/C | snv | 2 | |||
rs137852890 | 0.925 | 0.120 | 3 | 81536940 | stop gained | C/A;T | snv | 2 | |||
rs137852893 | 0.925 | 0.120 | 3 | 81642989 | missense variant | G/A | snv | 1.3E-05 | 2 | ||
rs137852894 | 0.925 | 0.120 | 3 | 81537071 | stop gained | C/T | snv | 1.1E-05 | 2 | ||
rs3849570 | 3 | 81742961 | intron variant | C/A | snv | 0.39 | 2 | ||||
rs397515343 | 1.000 | 0.080 | 3 | 81761374 | splice donor variant | C/T | snv | 2 | |||
rs397515344 | 0.925 | 0.120 | 3 | 81648851 | splice region variant | C/G | snv | 2 | |||
rs552094593 | 1.000 | 0.080 | 3 | 81537021 | missense variant | G/A;T | snv | 8.9E-06 | 2 | ||
rs6800135 | 0.925 | 0.040 | 3 | 81601337 | intron variant | C/T | snv | 0.64 | 2 | ||
rs766935302 | 0.925 | 0.080 | 3 | 81535220 | stop gained | G/A;C | snv | 2.8E-05 | 2 | ||
rs80338672 | 0.925 | 0.080 | 3 | 81578000 | missense variant | G/A | snv | 3.7E-05 | 7.0E-06 | 2 | |
rs12637192 | 1.000 | 0.040 | 3 | 81534447 | intron variant | G/T | snv | 9.2E-02 | 1 | ||
rs13082940 | 1.000 | 0.040 | 3 | 81498113 | intron variant | A/G | snv | 0.22 | 1 | ||
rs137852891 | 1.000 | 0.080 | 3 | 81535246 | missense variant | T/C | snv | 4.0E-06 | 1.4E-05 | 1 | |
rs137852892 | 1.000 | 0.120 | 3 | 81646466 | missense variant | C/G | snv | 2.1E-05 | 2.8E-05 | 1 | |
rs1490328834 | 1.000 | 0.120 | 3 | 81642817 | missense variant | T/C | snv | 4.0E-06 | 1 | ||
rs1553690406 | 1.000 | 0.080 | 3 | 81670852 | stop gained | C/A | snv | 1 |