Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs140511594 | 0.742 | 0.360 | 2 | 165941111 | missense variant | G/A | snv | 1.3E-04 | 1.1E-04 | 13 | |
rs386833941 | 1.000 | 0.080 | 19 | 35826505 | stop lost | GGGCTCTTACACCAGA/- | delins | 1 | |||
rs1430464721 | 1.000 | 0.080 | 19 | 35826621 | frameshift variant | C/- | del | 4.0E-06 | 1 | ||
rs1555758163 | 1.000 | 0.080 | 19 | 35826627 | frameshift variant | A/- | del | 1 | |||
rs386833940 | 1.000 | 0.080 | 19 | 35826647 | splice acceptor variant | T/C | snv | 4.0E-06 | 1 | ||
rs1555758856 | 1.000 | 0.080 | 19 | 35830843 | splice donor variant | C/T | snv | 1 | |||
rs750714387 | 1.000 | 0.080 | 19 | 35830883 | frameshift variant | -/G | delins | 1 | |||
rs756436580 | 1.000 | 0.080 | 19 | 35830889 | stop gained | -/T | delins | 2.0E-05; 5.2E-05 | 4.2E-05 | 1 | |
rs767887213 | 1.000 | 0.080 | 19 | 35830889 | stop gained | G/A;T | snv | 1 | |||
rs386833939 | 1.000 | 0.080 | 19 | 35830956 | missense variant | C/A | snv | 1 | |||
rs267606919 | 1.000 | 0.080 | 19 | 35831056 | stop gained | G/A | snv | 9.9E-05 | 2 | ||
rs150855173 | 1.000 | 0.080 | 19 | 35831092 | stop gained | G/A | snv | 8.0E-06 | 2.1E-05 | 1 | |
rs143092783 | 1.000 | 0.080 | 19 | 35831116 | missense variant | G/A;T | snv | 1.0E-04; 9.8E-04 | 1 | ||
rs730880176 | 1.000 | 0.080 | 19 | 35831147 | splice acceptor variant | C/T | snv | 4.0E-06 | 1 | ||
rs386833938 | 1.000 | 0.080 | 19 | 35831148 | splice acceptor variant | T/C | snv | 1 | |||
rs386833937 | 1.000 | 0.080 | 19 | 35831325 | frameshift variant | -/CC | delins | 1 | |||
rs137853042 | 1.000 | 0.080 | 19 | 35831358 | stop gained | G/A | snv | 1.6E-04 | 2.1E-05 | 1 | |
rs786204729 | 1.000 | 0.080 | 19 | 35831372 | splice acceptor variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 1 | ||
rs758432802 | 1.000 | 0.080 | 19 | 35831502 | splice acceptor variant | T/C;G | snv | 8.0E-06 | 1 | ||
rs386833935 | 1.000 | 0.080 | 19 | 35831679 | frameshift variant | C/-;CC | delins | 3.5E-05 | 1 | ||
rs1009762900 | 1.000 | 0.080 | 19 | 35831763 | splice acceptor variant | C/A;T | snv | 1 | |||
rs1057516637 | 1.000 | 0.080 | 19 | 35835755 | frameshift variant | -/G | delins | 1 | |||
rs34124941 | 1.000 | 0.080 | 19 | 35839284 | frameshift variant | -/C | delins | 1 | |||
rs749003854 | 1.000 | 0.080 | 19 | 35839287 | missense variant | C/A | snv | 2.4E-05 | 1 | ||
rs367986918 | 1.000 | 0.080 | 19 | 35839299 | missense variant | C/G;T | snv | 4.0E-06; 2.6E-04 | 1 |