Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121918304 | 0.925 | 0.080 | 22 | 32498453 | stop gained | C/A;T | snv | 4.0E-06; 4.0E-06 | 4 | ||
rs369634041 | 6 | 162262647 | missense variant | C/A;T | snv | 4.0E-06; 2.0E-05 | 3 | ||||
rs762999184 | 1.000 | 0.080 | 22 | 32478989 | missense variant | C/A;T | snv | 4.0E-06 | 7.0E-06 | 2 | |
rs772784579 | 1.000 | 0.040 | 17 | 44352387 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 2 | ||
rs113994097 | 0.724 | 0.400 | 15 | 89323426 | missense variant | C/G | snv | 9.7E-04 | 7.9E-04 | 22 | |
rs104893878 | 0.732 | 0.160 | 4 | 89835580 | missense variant | C/G | snv | 21 | |||
rs4606 | 0.752 | 0.120 | 1 | 192812042 | 3 prime UTR variant | C/G;T | snv | 16 | |||
rs2421947 | 1.000 | 0.040 | 1 | 171863954 | intron variant | C/G;T | snv | 2 | |||
rs1057519629 | 16 | 2498332 | missense variant | C/G;T | snv | 2.1E-05 | 1 | ||||
rs104893877 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 59 | |||
rs63751273 | 0.645 | 0.280 | 17 | 46010389 | missense variant | C/T | snv | 42 | |||
rs63750424 | 0.677 | 0.240 | 17 | 46024061 | missense variant | C/T | snv | 1.6E-05 | 30 | ||
rs2230288 | 0.776 | 0.160 | 1 | 155236376 | missense variant | C/T | snv | 1.0E-02 | 1.0E-02 | 18 | |
rs63751438 | 0.776 | 0.120 | 17 | 46010388 | missense variant | C/T | snv | 16 | |||
rs104893875 | 0.742 | 0.120 | 4 | 89828170 | missense variant | C/T | snv | 4.0E-06 | 13 | ||
rs398122403 | 0.807 | 0.080 | 21 | 32695106 | missense variant | C/T | snv | 1.2E-05 | 11 | ||
rs188286943 | 0.776 | 0.160 | 16 | 46662452 | missense variant | C/T | snv | 9 | |||
rs63750577 | 0.827 | 0.120 | 14 | 73186881 | missense variant | C/T | snv | 8 | |||
rs1224426272 | 0.925 | 0.040 | 12 | 119869138 | missense variant | C/T | snv | 6 | |||
rs45539432 | 0.851 | 0.040 | 1 | 20649109 | stop gained | C/T | snv | 4.0E-05 | 3.5E-05 | 5 | |
rs113388242 | 0.925 | 0.080 | 3 | 184327376 | missense variant | C/T | snv | 4.0E-05 | 7.0E-05 | 3 | |
rs781442277 | 1.000 | 0.040 | 2 | 24793223 | missense variant | C/T | snv | 4.0E-06; 1.2E-05 | 3 | ||
rs80338892 | 1.000 | 0.040 | 11 | 2167905 | missense variant | C/T | snv | 1.1E-04 | 1.4E-04 | 3 | |
rs756677845 | 1 | 20638074 | frameshift variant | G/- | del | 1 | |||||
rs34637584 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 78 |