Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs3218716 | 0.716 | 0.280 | 14 | 23425316 | missense variant | C/A;G;T | snv | 4.0E-06; 2.4E-05 | 17 | ||
rs121913628 | 0.763 | 0.160 | 14 | 23424059 | missense variant | C/G;T | snv | 10 | |||
rs3218713 | 0.763 | 0.160 | 14 | 23431468 | missense variant | C/A;T | snv | 10 | |||
rs267606908 | 0.763 | 0.160 | 14 | 23424112 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 9 | |
rs3218714 | 0.763 | 0.160 | 14 | 23429279 | missense variant | G/A;C | snv | 9 | |||
rs371898076 | 0.763 | 0.160 | 14 | 23426833 | missense variant | C/T | snv | 8.0E-06 | 4.9E-05 | 9 | |
rs397516127 | 0.763 | 0.160 | 14 | 23426834 | missense variant | G/A;C | snv | 9 | |||
rs397516171 | 0.763 | 0.160 | 14 | 23424041 | missense variant | C/G;T | snv | 9 | |||
rs397516264 | 0.763 | 0.160 | 14 | 23431602 | missense variant | C/T | snv | 4.0E-06 | 9 | ||
rs727504753 | 0.807 | 0.160 | 14 | 23429345 | missense variant | C/T | snv | 6 | |||
rs863224900 | 0.807 | 0.160 | 14 | 23428534 | missense variant | A/C;G;T | snv | 6 | |||
rs1566535410 | 0.851 | 0.080 | 14 | 23429297 | missense variant | T/C | snv | 5 | |||
rs267606910 | 0.807 | 0.080 | 14 | 23431589 | missense variant | C/T | snv | 8.0E-06 | 5 | ||
rs606231324 | 0.851 | 0.080 | 14 | 23428505 | missense variant | C/G;T | snv | 5 | |||
rs397516089 | 0.827 | 0.080 | 14 | 23429807 | missense variant | C/G;T | snv | 4 | |||
rs143139258 | 0.882 | 0.080 | 12 | 110913097 | missense variant | T/G | snv | 2.0E-04 | 2.9E-04 | 4 | |
rs59684335 | 0.882 | 0.120 | 1 | 156135280 | frameshift variant | CT/- | delins | 3 | |||
rs121913642 | 0.925 | 0.080 | 14 | 23427879 | missense variant | A/G | snv | 3 | |||
rs397516254 | 0.925 | 0.160 | 14 | 23413809 | missense variant | C/T | snv | 3 | |||
rs137853197 | 0.925 | 0.040 | 1 | 77942756 | missense variant | A/G | snv | 7.2E-05 | 1.0E-04 | 3 | |
rs267607003 | 0.925 | 0.040 | 10 | 110812310 | missense variant | C/A;G;T | snv | 3 | |||
rs761807131 | 0.882 | 0.160 | 2 | 178610089 | splice donor variant | C/T | snv | 4.0E-06 | 7.0E-06 | 3 | |
rs59026483 | 0.827 | 0.160 | 1 | 156134457 | missense variant | C/T | snv | 7.0E-06 | 2 | ||
rs727503253 | 1.000 | 0.040 | 14 | 23424119 | missense variant | G/A | snv | 4.0E-06 | 2 | ||
rs587779396 | 0.925 | 0.160 | 14 | 23415174 | inframe deletion | CAG/- | delins | 2 |