Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121965021 | 0.807 | 0.320 | 4 | 1003418 | missense variant | C/G;T | snv | 5.6E-05 | 7 | ||
rs121965020 | 0.827 | 0.280 | 4 | 987858 | stop gained | C/T | snv | 4.7E-04 | 6.1E-04 | 6 | |
rs121965019 | 0.851 | 0.120 | 4 | 1002747 | stop gained | G/A | snv | 5.9E-04 | 8.4E-04 | 5 | |
rs121965029 | 0.851 | 0.120 | 4 | 987916 | missense variant | G/A | snv | 9.2E-06 | 7.0E-06 | 4 | |
rs148789453 | 0.882 | 0.120 | 4 | 1001802 | missense variant | T/A;G | snv | 2.2E-05; 4.4E-06 | 4 | ||
rs991612107 | 0.882 | 0.120 | 4 | 1002748 | stop gained | G/A | snv | 4 | |||
rs121965031 | 0.882 | 0.120 | 4 | 1004286 | stop gained | C/A;G;T | snv | 4.0E-06; 8.1E-06 | 3 | ||
rs121965032 | 0.882 | 0.120 | 4 | 1002387 | missense variant | C/T | snv | 3 | |||
rs746766617 | 0.882 | 0.120 | 4 | 1002340 | missense variant | C/G | snv | 4.0E-06 | 3 | ||
rs762411583 | 0.882 | 0.120 | 4 | 1001672 | splice region variant | G/A;C | snv | 4.3E-06 | 3 | ||
rs772416503 | 0.882 | 0.120 | 4 | 1003120 | missense variant | C/G;T | snv | 1.4E-05 | 3 | ||
rs121965025 | 0.925 | 0.120 | 4 | 1004292 | stop gained | C/G;T | snv | 2.8E-04; 2.8E-05 | 2 | ||
rs1340421020 | 0.925 | 0.120 | 4 | 1002752 | stop gained | G/C;T | snv | 2 | |||
rs1553917428 | 0.925 | 0.120 | 4 | 1002946 | splice donor variant | T/G | snv | 2 | |||
rs1553917754 | 0.925 | 0.120 | 4 | 1004321 | frameshift variant | C/- | delins | 2 | |||
rs199801029 | 0.925 | 0.120 | 4 | 1002275 | missense variant | G/C | snv | 6.6E-05 | 7.7E-05 | 2 | |
rs387906504 | 0.925 | 0.120 | 4 | 1004391 | stop lost | T/G | snv | 2 | |||
rs754966840 | 0.925 | 0.120 | 4 | 987915 | missense variant | C/T | snv | 1.4E-05 | 2 | ||
rs758452450 | 0.925 | 0.120 | 4 | 987873 | missense variant | G/A;C | snv | 8.3E-06 | 2 | ||
rs764196171 | 0.925 | 0.120 | 4 | 1002325 | stop gained | C/A;G | snv | 4.0E-06 | 2 | ||
rs777295041 | 0.925 | 0.120 | 4 | 1000880 | splice acceptor variant | A/G | snv | 3.6E-05 | 1.4E-05 | 2 | |
rs779762183 | 0.925 | 0.120 | 4 | 1002063 | protein altering variant | -/CCCCCATTTACA | delins | 9.5E-06 | 7.0E-06 | 2 | |
rs786200915 | 0.925 | 0.120 | 4 | 1001700 | frameshift variant | -/TGCTC | delins | 2 | |||
rs794726877 | 0.925 | 0.120 | 4 | 987236 | missense variant | G/A | snv | 9.2E-06 | 1.4E-05 | 2 | |
rs869025584 | 0.925 | 0.120 | 4 | 1001742 | missense variant | T/C | snv | 8.9E-06 | 1.4E-05 | 2 |