Source: CURATED ×
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs141568342 | 1.000 | 0.080 | 22 | 28734532 | missense variant | C/T | snv | 1.6E-04 | 1.5E-04 | 2 | |
rs80359540 | 0.925 | 0.080 | 13 | 32340176 | frameshift variant | A/- | delins | 3 | |||
rs121908702 | 0.882 | 0.120 | 22 | 28711986 | stop gained | C/A;G;T | snv | 8.0E-06; 4.0E-06; 7.6E-05 | 4 | ||
rs72552322 | 0.925 | 0.120 | 22 | 28725070 | missense variant | C/T | snv | 2.4E-05 | 7.0E-06 | 4 | |
rs121908698 | 0.851 | 0.200 | 22 | 28725242 | splice donor variant | C/A;T | snv | 4.0E-06; 1.3E-04 | 7 | ||
rs200917541 | 0.851 | 0.200 | 22 | 28725270 | stop gained | G/A;T | snv | 5 | |||
rs560596101 | 0.851 | 0.200 | 22 | 28725241 | splice donor variant | A/C;G;T | snv | 4.0E-06 | 5 | ||
rs587781705 | 0.851 | 0.200 | 22 | 28734506 | stop gained | A/C | snv | 5 | |||
rs587782401 | 0.851 | 0.200 | 22 | 28734401 | splice donor variant | A/G;T | snv | 4.0E-06; 6.8E-05 | 5 | ||
rs730881701 | 0.827 | 0.200 | 22 | 28725278 | stop gained | G/A;C | snv | 2.4E-05 | 7.0E-06 | 5 | |
rs138213197 | 0.701 | 0.240 | 17 | 48728343 | missense variant | C/T | snv | 1.8E-03 | 1.6E-03 | 8 | |
rs45580035 | 0.790 | 0.240 | 13 | 32380043 | missense variant | C/T | snv | 1.2E-05 | 8 | ||
rs80359328 | 0.882 | 0.240 | 13 | 32336684 | frameshift variant | -/A | delins | 4 | |||
rs137853011 | 0.763 | 0.280 | 22 | 28695219 | missense variant | G/A | snv | 4.9E-04 | 2.6E-04 | 10 | |
rs180177132 | 0.790 | 0.280 | 16 | 23621362 | stop gained | C/T | snv | 6.0E-05 | 2.1E-05 | 8 | |
rs397507327 | 0.776 | 0.280 | 13 | 32338598 | stop gained | G/A;T | snv | 4.1E-06 | 9 | ||
rs80358427 | 0.776 | 0.280 | 13 | 32332877 | stop gained | A/T | snv | 4.0E-06 | 10 | ||
rs80358807 | 0.763 | 0.280 | 13 | 32340146 | stop gained | C/T | snv | 9 | |||
rs80359584 | 0.807 | 0.280 | 13 | 32340757 | frameshift variant | CTTAA/- | delins | 4.2E-06 | 1.4E-05 | 8 | |
rs397507404 | 0.763 | 0.320 | 13 | 32370955 | splice acceptor variant | G/A;T | snv | 10 | |||
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 | ||
rs80358721 | 0.724 | 0.320 | 13 | 32339320 | stop gained | C/A;G;R | snv | 4.2E-06 | 11 | ||
rs80358893 | 0.763 | 0.320 | 13 | 32341011 | stop gained | C/G | snv | 10 |