Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs12508721 | 0.742 | 0.360 | 4 | 122623509 | intron variant | C/T | snv | 0.24 | 11 | ||
rs387906692 | 0.752 | 0.480 | 17 | 68530405 | stop gained | C/T | snv | 11 | |||
rs907715 | 0.752 | 0.520 | 4 | 122613898 | intron variant | C/T | snv | 0.35 | 11 | ||
rs1554846212 | 0.851 | 0.160 | 10 | 75030037 | missense variant | C/T | snv | 9 | |||
rs370681 | 0.807 | 0.200 | 16 | 342461 | intron variant | C/T | snv | 0.48 | 6 | ||
rs1480612338 | 0.851 | 0.160 | 12 | 49090416 | missense variant | C/T | snv | 4.3E-06 | 4 | ||
rs765057534 | 0.851 | 0.240 | 15 | 51222402 | missense variant | C/T | snv | 4.0E-06 | 4 | ||
rs1003887 | 0.882 | 0.240 | 19 | 17816591 | 3 prime UTR variant | C/T | snv | 0.69 | 3 | ||
rs2278705 | 0.882 | 0.160 | 15 | 80402288 | intron variant | C/T | snv | 4.2E-02 | 3 | ||
rs869312712 | 0.925 | 0.360 | 6 | 157084866 | stop gained | C/T | snv | 3 | |||
rs2286663 | 0.925 | 0.200 | 19 | 17821480 | synonymous variant | C/T | snv | 0.10 | 7.3E-02 | 2 | |
rs121912556 | 1.000 | 0.120 | 19 | 17816945 | missense variant | C/T | snv | 6.9E-04 | 2.7E-04 | 1 | |
rs1057518944 | 0.807 | 0.280 | 5 | 36984990 | frameshift variant | CT/- | delins | 9 | |||
rs1060499548 | 0.724 | 0.440 | 9 | 130872961 | missense variant | G/A | snv | 27 | |||
rs587784105 | 0.732 | 0.440 | 5 | 177235863 | stop gained | G/A | snv | 19 | |||
rs765379963 | 0.701 | 0.520 | 1 | 165743172 | stop gained | G/A | snv | 1.2E-05 | 2.1E-05 | 19 | |
rs1057516033 | 0.807 | 0.400 | 10 | 75025250 | splice donor variant | G/A | snv | 9 | |||
rs122445099 | 0.827 | 0.400 | X | 77520832 | stop gained | G/A | snv | 6 | |||
rs2274911 | 0.851 | 0.160 | 6 | 116809541 | missense variant | G/A | snv | 0.72 | 0.74 | 6 | |
rs61729366 | 0.851 | 0.240 | 4 | 78511299 | missense variant | G/A | snv | 5.2E-03 | 5.8E-03 | 6 | |
rs1554904772 | 0.882 | 0.280 | 11 | 1443490 | missense variant | G/A | snv | 4 | |||
rs2069521 | 0.851 | 0.240 | 15 | 74746626 | upstream gene variant | G/A | snv | 4.9E-02 | 4 | ||
rs5000770 | 0.882 | 0.160 | 15 | 80424141 | intron variant | G/A | snv | 0.27 | 3 | ||
rs6932902 | 0.882 | 0.160 | 6 | 152055389 | intron variant | G/A | snv | 0.22 | 3 | ||
rs104894698 | 1.000 | 0.120 | 19 | 17816946 | missense variant | G/A | snv | 4.0E-06 | 2.1E-05 | 1 |