Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs104886142 | 0.790 | 0.280 | X | 108598793 | missense variant | G/A | snv | 8.7E-05 | 4.7E-05 | 10 | |
rs387906778 | 0.827 | 0.200 | 11 | 128911745 | missense variant | A/G | snv | 5 | |||
rs199830292 | 0.882 | 0.120 | 11 | 128916630 | missense variant | G/C | snv | 1.7E-04 | 7.7E-05 | 3 | |
rs794728448 | 0.724 | 0.280 | 7 | 150948445 | frameshift variant | CT/G | delins | 17 | |||
rs1805123 | 0.724 | 0.280 | 7 | 150948446 | missense variant | T/A;C;G | snv | 1.3E-05; 0.18; 8.4E-06 | 18 | ||
rs767910122 | 0.724 | 0.280 | 7 | 150948446 | frameshift variant | -/GTCCG | ins | 4.4E-05 | 17 | ||
rs766550724 | 0.882 | 0.280 | 2 | 227007354 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 | 3 | |
rs200107989 | 0.882 | 0.280 | 2 | 227294985 | missense variant | C/T | snv | 2.0E-04 | 3.6E-04 | 3 | |
rs1805124 | 0.742 | 0.280 | 3 | 38603929 | missense variant | T/C | snv | 0.22 | 0.25 | 16 | |
rs199473650 | 1.000 | 0.120 | 17 | 70175200 | missense variant | G/T | snv | 1 | |||
rs104894580 | 0.790 | 0.240 | 17 | 70175238 | missense variant | C/A;T | snv | 4.0E-06 | 7 | ||
rs199473369 | 1.000 | 0.120 | 17 | 70175250 | missense variant | G/A;C | snv | 1 | |||
rs104894575 | 1.000 | 0.120 | 17 | 70175251 | missense variant | A/T | snv | 1 | |||
rs199473652 | 1.000 | 0.120 | 17 | 70175259 | missense variant | A/G | snv | 1 | |||
rs104894585 | 0.851 | 0.120 | 17 | 70175263 | missense variant | C/G;T | snv | 5 | |||
rs199473371 | 1.000 | 0.120 | 17 | 70175272 | missense variant | A/G | snv | 1 | |||
rs199473373 | 0.882 | 0.120 | 17 | 70175283 | missense variant | C/T | snv | 3 | |||
rs199473653 | 0.925 | 0.120 | 17 | 70175284 | missense variant | G/A | snv | 2 | |||
rs797044841 | 1.000 | 0.120 | 17 | 70175306 | inframe deletion | GCTTTCGTCCTG/- | delins | 1 | |||
rs864622292 | 1.000 | 0.120 | 17 | 70175446 | missense variant | CCA/TTT | mnv | 1 | |||
rs199473377 | 0.925 | 0.120 | 17 | 70175470 | missense variant | G/A;C | snv | 2 | |||
rs199473380 | 1.000 | 0.120 | 17 | 70175500 | missense variant | G/T | snv | 1 | |||
rs104894581 | 1.000 | 0.120 | 17 | 70175596 | missense variant | C/T | snv | 1 | |||
rs199473655 | 1.000 | 0.120 | 17 | 70175614 | missense variant | C/T | snv | 1 | |||
rs199473383 | 1.000 | 0.120 | 17 | 70175683 | missense variant | G/A | snv | 1 |