Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1318358361 | 0.724 | 0.240 | 6 | 156778678 | missense variant | C/G | snv | 2.1E-05 | 13 | ||
rs763320093 | 1.000 | 0.120 | 1 | 165203923 | missense variant | A/G | snv | 1.6E-05 | 1.4E-05 | 1 | |
rs765379963 | 0.701 | 0.520 | 1 | 165743172 | stop gained | G/A | snv | 1.2E-05 | 2.1E-05 | 19 | |
rs1558939623 | 0.732 | 0.480 | 2 | 174824479 | missense variant | C/T | snv | 19 | |||
rs4647924 | 0.600 | 0.520 | 4 | 1801844 | missense variant | C/A;G;T | snv | 4.2E-06; 4.2E-06 | 49 | ||
rs200455852 | 0.851 | 0.200 | 8 | 18064458 | missense variant | T/C;G | snv | 5.8E-05 | 6 | ||
rs1391331735 | 0.925 | 0.120 | 17 | 18126795 | missense variant | C/T | snv | 7.0E-06 | 2 | ||
rs372466080 | 0.925 | 0.120 | 17 | 18166434 | synonymous variant | C/T | snv | 1.9E-04 | 1.0E-04 | 2 | |
rs80356529 | 0.827 | 0.240 | 3 | 193643996 | missense variant | G/A;C | snv | 9 | |||
rs794726869 | 0.925 | 0.120 | 2 | 197705955 | stop gained | C/T | snv | 7.0E-06 | 2 | ||
rs752298579 | 0.701 | 0.480 | 22 | 20061538 | missense variant | G/A | snv | 1.4E-04 | 7.0E-06 | 48 | |
rs1302739538 | 0.882 | 0.120 | 13 | 20189066 | stop gained | C/G;T | snv | 3 | |||
rs80338948 | 0.763 | 0.280 | 13 | 20189155 | missense variant | G/A | snv | 1.2E-04 | 2.0E-04 | 12 | |
rs397516875 | 0.925 | 0.120 | 13 | 20189197 | stop gained | C/A;T | snv | 6.4E-05 | 2 | ||
rs111033196 | 1.000 | 0.120 | 13 | 20189202 | missense variant | C/A;T | snv | 2.8E-04; 1.4E-02 | 2 | ||
rs111033299 | 0.763 | 0.280 | 13 | 20189299 | missense variant | C/T | snv | 4.8E-05 | 7.7E-05 | 10 | |
rs1291519904 | 0.925 | 0.120 | 13 | 20189325 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 | 2 | ||
rs104894409 | 0.827 | 0.120 | 13 | 20189332 | missense variant | C/A;G;T | snv | 1.6E-05; 3.6E-05; 4.0E-06 | 6 | ||
rs28931593 | 0.776 | 0.200 | 13 | 20189358 | missense variant | C/T | snv | 7.0E-06 | 9 | ||
rs104894403 | 0.851 | 0.240 | 13 | 20189386 | missense variant | C/A;G;T | snv | 4.0E-06 | 7 | ||
rs750188782 | 0.882 | 0.200 | 13 | 20189391 | frameshift variant | ACACGTTCTTGCAGCC/- | delins | 1.2E-05 | 5 | ||
rs104894404 | 0.882 | 0.200 | 13 | 20189406 | missense variant | C/G;T | snv | 4 | |||
rs1057517491 | 0.776 | 0.240 | 13 | 20189448 | frameshift variant | C/- | delins | 8 | |||
rs72561723 | 0.790 | 0.240 | 13 | 20189448 | missense variant | C/T | snv | 8.0E-06 | 7 | ||
rs72474224 | 0.708 | 0.440 | 13 | 20189473 | missense variant | C/A;T | snv | 7.7E-03 | 18 |