Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1131692272 | 0.851 | 0.240 | 2 | 100006808 | missense variant | C/T | snv | 8 | |||
rs1064796765 | 0.763 | 0.240 | 14 | 102002950 | missense variant | G/A | snv | 19 | |||
rs1567010427 | 0.882 | 14 | 102010824 | missense variant | G/A | snv | 11 | ||||
rs606231450 | 0.882 | 0.160 | 14 | 105226674 | missense variant | G/C;T | snv | 4.0E-06; 4.0E-06 | 7 | ||
rs373957300 | 0.882 | 0.160 | 14 | 105228832 | missense variant | G/A | snv | 1.6E-05 | 2.8E-05 | 7 | |
rs606231416 | 0.882 | 0.160 | 14 | 105241282 | missense variant | G/A | snv | 8.1E-06 | 7 | ||
rs370270828 | 0.882 | 0.160 | 14 | 105241292 | missense variant | G/A | snv | 8.0E-06 | 2.8E-05 | 7 | |
rs138249161 | 0.827 | 0.240 | 12 | 106432421 | missense variant | T/A | snv | 2.7E-04 | 3.0E-04 | 8 | |
rs775141057 | 0.882 | 0.120 | 12 | 106496115 | missense variant | C/A;T | snv | 4.0E-06 | 2.1E-05 | 6 | |
rs1297383239 | 19 | 1091909 | splice acceptor variant | T/C | snv | 4.0E-06 | 1 | ||||
rs761469100 | 12 | 110128960 | missense variant | C/T | snv | 1.2E-05 | 1 | ||||
rs143130309 | 12 | 110163027 | missense variant | C/A;T | snv | 2.0E-05 | 1 | ||||
rs1057519338 | 0.882 | X | 110264571 | stop gained | G/A | snv | 8 | ||||
rs1569405174 | X | 110317618 | frameshift variant | G/- | delins | 1 | |||||
rs765498367 | 0.925 | X | 110317643 | stop gained | A/G;T | snv | 1.2E-04 | 2.8E-05 | 6 | ||
rs267607048 | 0.752 | 0.560 | 10 | 110964362 | missense variant | A/G | snv | 7.0E-06 | 12 | ||
rs369634007 | 0.882 | 0.080 | 2 | 112098688 | missense variant | A/G | snv | 1.6E-05 | 2.1E-05 | 10 | |
rs121918461 | 0.827 | 0.240 | 12 | 112450362 | missense variant | A/C;G;T | snv | 8 | |||
rs121918460 | 0.708 | 0.400 | 12 | 112450364 | missense variant | T/A;G | snv | 4.0E-06 | 27 | ||
rs121918459 | 0.662 | 0.440 | 12 | 112450368 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 46 | |
rs121918454 | 0.742 | 0.280 | 12 | 112450395 | missense variant | C/A;G;T | snv | 16 | |||
rs397507514 | 0.790 | 0.240 | 12 | 112450408 | missense variant | G/C;T | snv | 9 | |||
rs121918466 | 0.752 | 0.280 | 12 | 112450416 | missense variant | A/G | snv | 12 | |||
rs397507517 | 0.827 | 0.160 | 12 | 112450497 | missense variant | A/C | snv | 8 | |||
rs397507520 | 0.658 | 0.520 | 12 | 112453279 | missense variant | G/C;T | snv | 34 |