Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs775104326 | 0.776 | 0.160 | 3 | 41224995 | stop gained | C/A;T | snv | 4.0E-06 | 10 | ||
rs387907329 | 0.827 | 0.200 | X | 49075573 | stop gained | G/A;T | snv | 5.5E-06 | 10 | ||
rs138119149 | 0.807 | 0.280 | 6 | 44304512 | missense variant | G/A | snv | 2.1E-04 | 2.4E-04 | 9 | |
rs864309483 | 0.851 | 0.080 | 3 | 123352464 | missense variant | G/A | snv | 9 | |||
rs180177040 | 0.790 | 0.360 | 7 | 140754187 | missense variant | T/C;G | snv | 9 | |||
rs797044523 | 0.882 | 21 | 37480756 | frameshift variant | -/A | delins | 9 | ||||
rs1064797103 | 0.827 | 0.280 | 8 | 91078597 | missense variant | A/G | snv | 9 | |||
rs786201041 | 0.776 | 0.160 | 10 | 87961119 | splice donor variant | G/A;C | snv | 9 | |||
rs782316919 | 0.827 | 0.160 | 9 | 133351970 | frameshift variant | AG/- | delins | 8.4E-05 | 9 | ||
rs147001633 | 0.776 | 0.240 | 2 | 25234373 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 2.2E-04 | 8 | ||
rs376526037 | 0.776 | 0.440 | 10 | 49483504 | stop gained | G/A | snv | 1.6E-05 | 2.8E-05 | 8 | |
rs587777308 | 0.763 | 0.040 | 5 | 161873196 | missense variant | G/A | snv | 8 | |||
rs104894419 | 0.807 | 0.360 | 13 | 108208829 | stop gained | G/A | snv | 9.9E-05 | 7.0E-05 | 8 | |
rs121908595 | 0.827 | 0.280 | 15 | 66436843 | missense variant | A/G | snv | 4.0E-06 | 8 | ||
rs368313959 | 0.851 | 0.080 | 8 | 91078383 | stop gained | C/T | snv | 1.6E-04 | 1.0E-04 | 8 | |
rs199469464 | 0.807 | 0.200 | 16 | 30737370 | stop gained | C/T | snv | 8 | |||
rs587776935 | 0.827 | 0.120 | 1 | 243505296 | missense variant | G/A | snv | 7 | |||
rs180177042 | 0.807 | 0.280 | 7 | 140749365 | missense variant | A/C;T | snv | 7 | |||
rs387906660 | 0.790 | 0.280 | 7 | 140801550 | missense variant | G/A;C;T | snv | 7 | |||
rs1057520918 | 0.790 | 0.160 | 19 | 13262780 | missense variant | C/T | snv | 7 | |||
rs61750241 | 0.807 | 0.080 | X | 154031022 | frameshift variant | C/- | delins | 7 | |||
rs863225082 | 0.827 | 0.160 | 6 | 43007265 | missense variant | G/A | snv | 7 | |||
rs80359541 | 0.882 | 0.200 | 13 | 32340183 | frameshift variant | C/- | del | 8.0E-06 | 6 | ||
rs886037945 | 0.827 | 0.160 | 19 | 13303584 | missense variant | C/T | snv | 6 | |||
rs199821421 | 0.827 | 0.160 | 16 | 3728723 | stop gained | G/A;T | snv | 5.2E-05 | 6 |