Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1555460315 | 1.000 | 0.080 | 16 | 23629673 | frameshift variant | GT/- | delins | 2 | |||
rs876659036 | 1.000 | 0.080 | 16 | 23622997 | stop gained | C/A;G | snv | 8.0E-06; 8.0E-06 | 3 | ||
rs864622401 | 0.882 | 0.200 | 13 | 32339092 | frameshift variant | -/TG | delins | 4 | |||
rs1800747 | 0.882 | 0.200 | 17 | 43063952 | splice acceptor variant | C/A;G;T | snv | 5 | |||
rs28897696 | 0.807 | 0.200 | 17 | 43063903 | missense variant | G/A;C;T | snv | 2.8E-05; 4.0E-06; 2.0E-05 | 5 | ||
rs587776416 | 0.882 | 0.240 | 16 | 23629986 | frameshift variant | AT/- | del | 6.4E-05 | 2.1E-05 | 5 | |
rs80356923 | 0.882 | 0.200 | 17 | 43091891 | stop gained | C/A;T | snv | 9.9E-05 | 5 | ||
rs80357888 | 0.882 | 0.200 | 17 | 43094023 | frameshift variant | ATTTA/- | delins | 5 | |||
rs41293465 | 0.851 | 0.200 | 17 | 43045767 | stop gained | G/A | snv | 1.2E-05 | 6 | ||
rs62625308 | 0.851 | 0.200 | 17 | 43091924 | stop gained | G/A;C | snv | 1.2E-05 | 6 | ||
rs80357783 | 0.851 | 0.200 | 17 | 43124030 | frameshift variant | -/T | delins | 4.0E-06 | 6 | ||
rs80359351 | 0.851 | 0.200 | 13 | 32337161 | frameshift variant | ACAA/- | delins | 2.1E-05 | 6 | ||
rs28904921 | 0.763 | 0.320 | 11 | 108329202 | missense variant | T/G | snv | 4.0E-05 | 6.3E-05 | 7 | |
rs80356978 | 0.827 | 0.200 | 17 | 43092809 | stop gained | C/A;T | snv | 7 | |||
rs80357123 | 0.827 | 0.200 | 17 | 43057078 | stop gained | G/A;C;T | snv | 1.2E-05 | 7 | ||
rs80357382 | 0.763 | 0.240 | 17 | 43106457 | missense variant | T/C | snv | 4.0E-06 | 7 | ||
rs80357906 | 0.827 | 0.200 | 17 | 43057062 | frameshift variant | -/G | delins | 1.8E-04 | 7 | ||
rs80358044 | 0.827 | 0.200 | 17 | 43074330 | splice donor variant | C/A;G;T | snv | 7 | |||
rs80358981 | 0.827 | 0.200 | 13 | 32356550 | stop gained | C/T | snv | 2.0E-05 | 1.4E-05 | 7 | |
rs80356962 | 0.807 | 0.200 | 17 | 43047666 | stop gained | C/G;T | snv | 4.0E-06 | 7.0E-06 | 8 | |
rs80359550 | 0.807 | 0.280 | 13 | 32340301 | frameshift variant | T/- | del | 1.8E-04 | 8 | ||
rs80359584 | 0.807 | 0.280 | 13 | 32340757 | frameshift variant | CTTAA/- | delins | 4.2E-06 | 1.4E-05 | 8 | |
rs80358785 | 0.790 | 0.240 | 13 | 32340000 | stop gained | C/A;G | snv | 1.6E-05 | 9 | ||
rs137853011 | 0.763 | 0.280 | 22 | 28695219 | missense variant | G/A | snv | 4.9E-04 | 2.6E-04 | 10 | |
rs28897672 | 0.732 | 0.280 | 17 | 43106487 | missense variant | A/C;G;T | snv | 3.2E-05 | 10 |