Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs12836771 | 0.882 | 0.080 | X | 114650913 | intron variant | A/G | snv | 0.12 | 4 | ||
rs193922331 | 0.882 | 0.080 | 7 | 44147726 | missense variant | A/G | snv | 7.0E-06 | 4 | ||
rs561017686 | 0.882 | 0.120 | 2 | 181678138 | missense variant | G/A;C | snv | 8.0E-06; 8.4E-04 | 4 | ||
rs1057524902 | 0.882 | 0.080 | 7 | 44145495 | splice donor variant | A/T | snv | 3 | |||
rs1057524904 | 0.882 | 0.080 | 7 | 44147765 | missense variant | G/A | snv | 3 | |||
rs1057524905 | 0.882 | 0.080 | 7 | 44147834 | splice acceptor variant | C/T | snv | 3 | |||
rs1064793998 | 0.882 | 0.080 | 7 | 44153325 | missense variant | C/T | snv | 3 | |||
rs1446306735 | 0.882 | 0.120 | 11 | 17395664 | missense variant | C/A;T | snv | 3 | |||
rs164147 | 0.882 | 0.080 | 1 | 162368607 | 3 prime UTR variant | A/C | snv | 0.76 | 3 | ||
rs193922289 | 0.882 | 0.080 | 7 | 44152420 | missense variant | C/T | snv | 4.0E-06 | 3 | ||
rs193929375 | 0.882 | 0.120 | 7 | 44145560 | missense variant | C/A | snv | 3 | |||
rs369841551 | 0.882 | 0.120 | 18 | 60371884 | stop gained | G/A;T | snv | 4.0E-06 | 3 | ||
rs587777042 | 0.882 | 0.040 | 8 | 144096615 | missense variant | C/T | snv | 4.0E-06 | 3 | ||
rs59852838 | 0.882 | 0.120 | 11 | 17453228 | missense variant | T/C | snv | 4.0E-05 | 4.9E-05 | 3 | |
rs572115942 | 0.925 | 0.240 | 16 | 30756714 | missense variant | G/A | snv | 8.0E-05 | 7.7E-05 | 7 | |
rs4436578 | 0.925 | 0.080 | 11 | 113436043 | intron variant | C/T | snv | 0.73 | 4 | ||
rs8004664 | 0.925 | 0.080 | 14 | 89568628 | intron variant | G/A;C | snv | 3 | |||
rs104894006 | 0.925 | 0.040 | 7 | 44149992 | stop gained | G/A;T | snv | 1.2E-05 | 2 | ||
rs10515074 | 0.925 | 0.120 | 5 | 68270365 | intron variant | A/G;T | snv | 2 | |||
rs1057524900 | 0.925 | 0.080 | 7 | 44145173 | missense variant | G/A;T | snv | 4.2E-06 | 2 | ||
rs1057524901 | 0.925 | 0.080 | 7 | 44145190 | frameshift variant | G/- | del | 2 | |||
rs1057524903 | 0.925 | 0.080 | 7 | 44146466 | missense variant | T/C | snv | 2 | |||
rs1057524906 | 0.925 | 0.080 | 7 | 44153387 | missense variant | A/G | snv | 2 | |||
rs1057524907 | 0.925 | 0.080 | 11 | 2159907 | missense variant | T/C | snv | 2 | |||
rs1057524908 | 0.925 | 0.080 | 12 | 120993686 | frameshift variant | -/C | delins | 2 |