Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs3218716 | 0.716 | 0.280 | 14 | 23425316 | missense variant | C/A;G;T | snv | 4.0E-06; 2.4E-05 | 17 | ||
rs121913628 | 0.763 | 0.160 | 14 | 23424059 | missense variant | C/G;T | snv | 10 | |||
rs3218713 | 0.763 | 0.160 | 14 | 23431468 | missense variant | C/A;T | snv | 10 | |||
rs267606908 | 0.763 | 0.160 | 14 | 23424112 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 9 | |
rs3218714 | 0.763 | 0.160 | 14 | 23429279 | missense variant | G/A;C | snv | 9 | |||
rs371898076 | 0.763 | 0.160 | 14 | 23426833 | missense variant | C/T | snv | 8.0E-06 | 4.9E-05 | 9 | |
rs397516127 | 0.763 | 0.160 | 14 | 23426834 | missense variant | G/A;C | snv | 9 | |||
rs397516171 | 0.763 | 0.160 | 14 | 23424041 | missense variant | C/G;T | snv | 9 | |||
rs397516264 | 0.763 | 0.160 | 14 | 23431602 | missense variant | C/T | snv | 4.0E-06 | 9 | ||
rs727504753 | 0.807 | 0.160 | 14 | 23429345 | missense variant | C/T | snv | 6 | |||
rs863224900 | 0.807 | 0.160 | 14 | 23428534 | missense variant | A/C;G;T | snv | 6 | |||
rs267606782 | 0.925 | 0.120 | X | 154379485 | start lost | A/G | snv | 4 | |||
rs28933098 | 0.882 | 0.160 | 14 | 23415021 | missense variant | G/A;T | snv | 4 | |||
rs1557182692 | 0.925 | 0.120 | X | 154381106 | frameshift variant | TCTGG/- | del | 3 | |||
rs1557182214 | 0.925 | 0.120 | X | 154379567 | splice donor variant | G/T | snv | 2 | |||
rs730880761 | 0.925 | 0.120 | 14 | 23424025 | missense variant | T/A | snv | 8.0E-06 | 2 | ||
rs104894805 | 1.000 | 0.120 | X | 154380980 | missense variant | C/A;T | snv | 1 | |||
rs104894806 | 1.000 | 0.120 | X | 154380979 | missense variant | C/A | snv | 1 | |||
rs1060502612 | 1.000 | 0.120 | X | 154379730 | stop gained | C/A | snv | 1 | |||
rs132630262 | 1.000 | 0.120 | X | 154379737 | stop gained | C/T | snv | 1 | |||
rs1557182301 | 1.000 | 0.120 | X | 154379740 | frameshift variant | -/G | delins | 1 | |||
rs1557182364 | 1.000 | 0.120 | X | 154379968 | frameshift variant | -/AT | delins | 1 | |||
rs1557182560 | 1.000 | 0.120 | X | 154380783 | stop gained | G/T | snv | 1 | |||
rs1557182611 | 1.000 | 0.120 | X | 154380916 | stop gained | C/T | snv | 1 | |||
rs1557182654 | 1.000 | 0.120 | X | 154381013 | frameshift variant | CA/- | del | 1 |