Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs745886248 | 0.742 | 0.360 | 1 | 25811710 | missense variant | G/A;C;T | snv | 4.3E-06; 4.3E-06; 4.3E-06 | 25 | ||
rs121908188 | 0.742 | 0.360 | 1 | 25809753 | missense variant | G/A;C | snv | 1.8E-04 | 25 | ||
rs199564797 | 0.742 | 0.360 | 1 | 25809150 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 | 25 | |
rs368104077 | 1.000 | 0.120 | 1 | 25808753 | frameshift variant | -/A | delins | 1 | |||
rs1174570887 | 1.000 | 0.120 | 1 | 25800232 | start lost | T/A;C;G | snv | 7.4E-06 | 1 | ||
rs121908185 | 1.000 | 0.120 | 1 | 25813890 | missense variant | G/A | snv | 4.8E-05 | 6.3E-05 | 1 | |
rs587776597 | 1.000 | 0.120 | 1 | 25812790 | stop gained | G/A | snv | 1 | |||
rs377215510 | 1.000 | 0.120 | 1 | 25812720 | stop gained | C/G;T | snv | 2.8E-05 | 1 | ||
rs760063405 | 1.000 | 0.120 | 1 | 25812780 | stop gained | C/T | snv | 8.1E-06 | 1 | ||
rs960468382 | 1.000 | 0.120 | 1 | 25813962 | stop gained | G/A | snv | 1.2E-05 | 1 | ||
rs797044621 | 1.000 | 0.120 | 1 | 25800233 | frameshift variant | -/CGGCCGGGCC | delins | 7.3E-05 | 1 | ||
rs1553198611 | 1.000 | 0.120 | 1 | 25801105 | frameshift variant | -/GG | delins | 1 | |||
rs1553120202 | 1.000 | 0.120 | 1 | 25809731 | stop gained | G/A | snv | 1 | |||
rs121908184 | 1.000 | 0.120 | 1 | 25800231 | start lost | A/G | snv | 4.5E-05 | 1 | ||
rs1553120047 | 1.000 | 0.120 | 1 | 25808707 | stop gained | G/A | snv | 1 | |||
rs121908186 | 1.000 | 0.120 | 1 | 25812763 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 | 1 | |
rs121908187 | 1.000 | 0.120 | 1 | 25812789 | missense variant | T/G | snv | 1 | |||
rs756927098 | 1.000 | 0.120 | 1 | 25813898 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 1 | |
rs773670891 | 1.000 | 0.120 | 1 | 25802115 | splice donor variant | GAGT/- | delins | 1.1E-04 | 3.2E-04 | 1 | |
rs121908182 | 1.000 | 0.120 | 1 | 25809096 | missense variant | G/A | snv | 1 | |||
rs779162837 | 1.000 | 0.120 | 1 | 25813899 | missense variant | G/A;T | snv | 1.6E-05; 4.0E-06 | 1 | ||
rs1557814050 | 1.000 | 0.120 | 1 | 25800396 | stop gained | C/T | snv | 1 | |||
rs1553198464 | 1.000 | 0.080 | 1 | 25800218 | start lost | AGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCAACGCGGGCCGCCCAGCCCCGGCC/- | delins | 1 | |||
rs797045950 | 1.000 | 0.080 | 1 | 25809104 | protein altering variant | -/CCT | delins | 1 |