Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs483352832 | 1 | 201364327 | missense variant | G/A | snv | 3.2E-05 | 1 | ||||
rs869025546 | 2 | 178555038 | stop gained | C/T | snv | 2.8E-05 | 1 | ||||
rs747321794 | 21 | 34449462 | missense variant | G/A | snv | 2.8E-05 | 1 | ||||
rs753988867 | 1 | 156137180 | missense variant | C/T | snv | 2.1E-05 | 3.5E-05 | 1 | |||
rs751039219 | 2 | 178532605 | stop gained | G/A;T | snv | 2.0E-05; 4.0E-06 | 1 | ||||
rs45525839 | 1 | 201364357 | missense variant | G/A;C;T | snv | 4.0E-06; 2.0E-05 | 1 | ||||
rs727504851 | 0.925 | 0.160 | 2 | 178613159 | splice donor variant | A/- | del | 1.6E-05 | 2.8E-05 | 3 | |
rs574660186 | 0.807 | 0.200 | 2 | 178579702 | stop gained | G/A;C | snv | 1.6E-05 | 3.5E-05 | 7 | |
rs111033560 | 0.807 | 0.040 | 6 | 118559037 | stop gained | T/G | snv | 1.6E-05 | 7 | ||
rs145734640 | 0.925 | 0.080 | 14 | 23415096 | missense variant | G/A;C;T | snv | 1.6E-05; 1.6E-05; 4.0E-06 | 1 | ||
rs397516142 | 1.000 | 0.080 | 14 | 23425357 | missense variant | C/A;G;T | snv | 8.0E-06; 1.6E-05 | 3 | ||
rs121913647 | 0.925 | 0.160 | 14 | 23417173 | missense variant | C/A;G;T | snv | 1.6E-05 | 3 | ||
rs752856716 | 2 | 178632349 | frameshift variant | -/A | delins | 1.3E-05 | 1 | ||||
rs780512337 | 2 | 178565638 | stop gained | C/A;T | snv | 1.2E-05 | 1 | ||||
rs112188483 | 0.925 | 0.160 | 2 | 178528273 | splice donor variant | C/G;T | snv | 1.2E-05 | 3 | ||
rs772121356 | 2 | 178557730 | stop gained | G/A;T | snv | 1.2E-05 | 1 | ||||
rs59301204 | 0.925 | 0.080 | 1 | 156135956 | missense variant | G/A;C | snv | 1.2E-05 | 2 | ||
rs121913630 | 0.851 | 0.080 | 14 | 23425814 | missense variant | G/A;C | snv | 1.2E-05 | 3 | ||
rs587777587 | 1.000 | 3 | 12584539 | missense variant | G/A;C | snv | 1.2E-05; 4.0E-06 | 1.4E-05 | 2 | ||
rs397517244 | 10 | 74072792 | stop gained | C/T | snv | 1.2E-05 | 1.4E-05 | 1 | |||
rs397516973 | 6 | 7565448 | stop gained | C/A;T | snv | 1.2E-05 | 1 | ||||
rs397516253 | 14 | 23413823 | missense variant | C/G;T | snv | 1.2E-05 | 1 | ||||
rs150974575 | 1.000 | 0.160 | 2 | 219423817 | stop gained | C/T | snv | 1.2E-05 | 3 | ||
rs377491278 | 14 | 23427773 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 | 1 | |||
rs45516091 | 14 | 23431608 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 | 2 |