Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs754320812 | 0.925 | 8 | 144360427 | missense variant | T/C | snv | 2.4E-05 | 3.5E-05 | 4 | ||
rs148234606 | 0.925 | 8 | 144360604 | missense variant | T/C | snv | 7.0E-05 | 7.7E-05 | 4 | ||
rs377740960 | 0.882 | 0.120 | 8 | 144359913 | missense variant | C/A;G;T | snv | 8.0E-06; 8.0E-06 | 3 | ||
rs398124641 | 0.882 | 0.120 | 8 | 144360408 | missense variant | G/A;T | snv | 4.1E-05 | 6.3E-05 | 3 | |
rs374071862 | 1.000 | 8 | 144359875 | missense variant | C/T | snv | 1.2E-05 | 4.9E-05 | 1 | ||
rs398123068 | 1.000 | 8 | 144360406 | missense variant | A/G | snv | 8.1E-06 | 1.4E-05 | 1 | ||
rs782305211 | 1.000 | 8 | 144359622 | splice acceptor variant | G/A;C | snv | 8.0E-06; 8.0E-06 | 1 | |||
rs782345472 | 1.000 | 8 | 144359997 | missense variant | C/T | snv | 2.0E-05 | 7.0E-06 | 1 | ||
rs782591841 | 1.000 | 8 | 144359789 | missense variant | G/C | snv | 4.0E-05 | 2.1E-05 | 1 | ||
rs797045200 | 1.000 | 8 | 144360192 | stop gained | C/T | snv | 1 | ||||
rs368924997 | 1.000 | 8 | 144360935 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 | 1 | ||
rs397514658 | 1.000 | 8 | 144360932 | missense variant | G/A | snv | 1 | ||||
rs1554853682 | 1.000 | 8 | 144359183 | splice acceptor variant | G/A | snv | 1 | ||||
rs1554854044 | 1.000 | 8 | 144360038 | frameshift variant | C/-;CC | delins | 1 | ||||
rs1564653965 | 1.000 | 8 | 144359377 | splice donor variant | AAGAGCTTCCAGAGGGTGAGTGGGAGGGAGGTGCAGGTGTGCCCAAGACTCCTGGGCTGCGGTCAGTGGGATCTGGGTGGAGCTACCTGTGGTGGTCA/- | delins | 1 | ||||
rs375088539 | 1.000 | 8 | 144360300 | stop gained | C/T | snv | 1.2E-05 | 2.8E-05 | 1 | ||
rs397514538 | 1.000 | 8 | 144359860 | missense variant | T/C | snv | 4.0E-06 | 1.4E-05 | 1 | ||
rs397514657 | 1.000 | 8 | 144359647 | missense variant | C/G;T | snv | 4.0E-06; 1.2E-05 | 1 | |||
rs398123067 | 1.000 | 8 | 144360343 | missense variant | C/A;T | snv | 1 | ||||
rs797045199 | 1.000 | 8 | 144359385 | missense variant | G/C | snv | 7.0E-06 | 1 | |||
rs797045201 | 1.000 | 8 | 144360357 | missense variant | C/G;T | snv | 1 |