Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs41293511 | 0.763 | 0.320 | 13 | 32363369 | missense variant | G/A;C | snv | 7.0E-06 | 10 | ||
rs80358391 | 0.763 | 0.320 | 13 | 32319109 | stop gained | G/A;T | snv | 4.0E-06 | 10 | ||
rs80358557 | 0.763 | 0.320 | 13 | 32337464 | stop gained | C/A;T | snv | 4.0E-06; 4.0E-06 | 10 | ||
rs80358893 | 0.763 | 0.320 | 13 | 32341011 | stop gained | C/G | snv | 10 | |||
rs80359014 | 0.763 | 0.320 | 13 | 32362596 | missense variant | A/G;T | snv | 10 | |||
rs80359031 | 0.763 | 0.320 | 13 | 32363190 | missense variant | A/T | snv | 10 | |||
rs80359604 | 0.763 | 0.320 | 13 | 32329468 | frameshift variant | GT/- | delins | 10 | |||
rs397508986 | 0.807 | 0.280 | 17 | 43092919 | frameshift variant | G/AA | delins | 9 | |||
rs41293463 | 0.790 | 0.280 | 17 | 43051071 | missense variant | A/C;T | snv | 1.2E-05 | 9 | ||
rs80356952 | 0.790 | 0.200 | 17 | 43093901 | stop gained | G/A | snv | 9 | |||
rs397508045 | 0.763 | 0.320 | 13 | 32319101 | stop gained | G/A;T | snv | 4.0E-06; 4.0E-06 | 9 | ||
rs80358638 | 0.776 | 0.280 | 13 | 32338277 | stop gained | G/A;T | snv | 5.6E-05 | 9 | ||
rs80358785 | 0.790 | 0.240 | 13 | 32340000 | stop gained | C/A;G | snv | 1.6E-05 | 9 | ||
rs62625307 | 0.827 | 0.200 | 17 | 43091933 | stop gained | G/A | snv | 4.0E-06 | 8 | ||
rs62625308 | 0.851 | 0.200 | 17 | 43091924 | stop gained | G/A;C | snv | 1.2E-05 | 8 | ||
rs80356962 | 0.807 | 0.200 | 17 | 43047666 | stop gained | C/G;T | snv | 4.0E-06 | 7.0E-06 | 8 | |
rs80357086 | 0.851 | 0.200 | 17 | 43106480 | stop gained | A/G;T | snv | 8 | |||
rs80357115 | 0.790 | 0.200 | 17 | 43092597 | stop gained | A/C;T | snv | 8 | |||
rs80357750 | 0.790 | 0.200 | 17 | 43115759 | frameshift variant | G/- | delins | 8 | |||
rs80357906 | 0.827 | 0.200 | 17 | 43057062 | frameshift variant | -/G | delins | 1.8E-04 | 8 | ||
rs28897743 | 0.827 | 0.280 | 13 | 32346896 | missense variant | G/A;C;T | snv | 4.0E-06 | 8 | ||
rs45580035 | 0.790 | 0.240 | 13 | 32380043 | missense variant | C/T | snv | 1.2E-05 | 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 | |
rs80359601 | 0.807 | 0.360 | 13 | 32340890 | frameshift variant | -/A;NNNNNNNN | ins | 4.1E-06 | 8 |