Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs104893823 | 0.882 | 0.040 | 3 | 52451285 | missense variant | C/T | snv | 1 | |||
rs104894501 | 0.851 | 0.040 | 15 | 63044030 | stop gained | G/A;C;T | snv | 4.0E-06 | 1 | ||
rs104894505 | 0.882 | 0.040 | 15 | 63044072 | missense variant | G/A | snv | 1 | |||
rs104894655 | 0.925 | 0.120 | 17 | 39665762 | stop gained | C/T | snv | 1.4E-05 | 3 | ||
rs104894942 | 1.000 | 0.120 | X | 154413248 | missense variant | C/A;T | snv | 1 | |||
rs1064793814 | 2 | 178559769 | stop gained | C/T | snv | 1 | |||||
rs111033559 | 0.925 | 0.040 | 6 | 118558946 | missense variant | C/T | snv | 3 | |||
rs111033560 | 0.807 | 0.040 | 6 | 118559037 | stop gained | T/G | snv | 1.6E-05 | 7 | ||
rs1114167453 | 1.000 | 19 | 45385569 | stop gained | G/C | snv | 4 | ||||
rs111569862 | 1 | 156137653 | splice acceptor variant | G/A;C | snv | 1 | |||||
rs112188483 | 0.925 | 0.160 | 2 | 178528273 | splice donor variant | C/G;T | snv | 1.2E-05 | 3 | ||
rs112240298 | 2 | 178538945 | splice donor variant | C/G;T | snv | 1 | |||||
rs114638163 | 0.827 | 0.240 | 13 | 23805994 | stop gained | C/A;T | snv | 4.0E-06; 1.3E-03 | 10 | ||
rs121912997 | 0.925 | 0.160 | 6 | 7579989 | stop gained | C/G;T | snv | 3 | |||
rs121913627 | 0.851 | 0.080 | 14 | 23427657 | missense variant | C/A;G;T | snv | 4.0E-06 | 3 | ||
rs121913630 | 0.851 | 0.080 | 14 | 23425814 | missense variant | G/A;C | snv | 1.2E-05 | 3 | ||
rs121913642 | 0.925 | 0.080 | 14 | 23427879 | missense variant | A/G | snv | 3 | |||
rs121913647 | 0.925 | 0.160 | 14 | 23417173 | missense variant | C/A;G;T | snv | 1.6E-05 | 3 | ||
rs137853197 | 0.925 | 0.040 | 1 | 77942756 | missense variant | A/G | snv | 7.2E-05 | 1.0E-04 | 3 | |
rs137854618 | 0.742 | 0.120 | 3 | 38566426 | missense variant | C/A;T | snv | 8.0E-06 | 5 | ||
rs140614802 | 0.851 | 0.040 | 14 | 104741231 | missense variant | G/A | snv | 3.4E-05 | 2.8E-05 | 10 | |
rs140743001 | 1.000 | 0.040 | 2 | 178630250 | stop gained | G/A | snv | 8.1E-06 | 1.4E-05 | 2 | |
rs1408345511 | 2 | 178740175 | frameshift variant | G/- | delins | 4.0E-06 | 1 | ||||
rs143139258 | 0.882 | 0.080 | 12 | 110913097 | missense variant | T/G | snv | 2.0E-04 | 2.9E-04 | 4 | |
rs145734640 | 0.925 | 0.080 | 14 | 23415096 | missense variant | G/A;C;T | snv | 1.6E-05; 1.6E-05; 4.0E-06 | 1 |