Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs201754030 | 0.925 | 0.200 | 12 | 57796461 | stop gained | C/T | snv | 1.5E-03 | 1.3E-03 | 2 | |
rs114638163 | 0.827 | 0.240 | 13 | 23805994 | stop gained | C/A;T | snv | 4.0E-06; 1.3E-03 | 10 | ||
rs749838192 | 22 | 50524395 | frameshift variant | -/TGAGTCACTGCTGCATGCT | ins | 5.8E-04; 4.2E-06 | 8.9E-04 | 1 | |||
rs202234172 | 2 | 178689897 | splice acceptor variant | C/T | snv | 3.4E-04 | 4.7E-04 | 1 | |||
rs200797552 | 2 | 178578078 | stop gained | C/A;T | snv | 3.3E-04 | 1 | ||||
rs563762318 | 10 | 110831154 | missense variant | G/A | snv | 2.8E-04 | 6.3E-05 | 1 | |||
rs143139258 | 0.882 | 0.080 | 12 | 110913097 | missense variant | T/G | snv | 2.0E-04 | 2.9E-04 | 4 | |
rs727505352 | 2 | 178578835 | stop gained | G/A;T | snv | 1.5E-04 | 1 | ||||
rs148894066 | 6 | 7579697 | stop gained | C/A;T | snv | 1.4E-04 | 1 | ||||
rs6716782 | 2 | 178706956 | splice acceptor variant | T/G | snv | 1.3E-04 | 5.9E-04 | 1 | |||
rs74315379 | 0.827 | 0.080 | 1 | 201364336 | missense variant | G/A;T | snv | 1.2E-04 | 5 | ||
rs587782987 | 2 | 178611274 | splice region variant | G/A | snv | 1.1E-04; 4.1E-06 | 1.0E-04 | 1 | |||
rs748369265 | 2 | 178601788 | splice acceptor variant | C/T | snv | 9.3E-05 | 1.4E-05 | 1 | |||
rs779996703 | 2 | 178567141 | stop gained | G/A;T | snv | 8.9E-05 | 1 | ||||
rs72646846 | 0.925 | 0.160 | 2 | 178589849 | stop gained | G/A | snv | 7.6E-05 | 6.3E-05 | 4 | |
rs137853197 | 0.925 | 0.040 | 1 | 77942756 | missense variant | A/G | snv | 7.2E-05 | 1.0E-04 | 3 | |
rs768345594 | 2 | 178585291 | stop gained | G/A;T | snv | 2.0E-05; 6.9E-05 | 1 | ||||
rs371678190 | 1.000 | 0.040 | 2 | 178578066 | stop gained | G/A;T | snv | 4.0E-06; 5.6E-05 | 3 | ||
rs777602537 | 2 | 178576614 | stop gained | G/A;T | snv | 5.6E-05 | 1 | ||||
rs397516695 | 0.882 | 0.040 | 2 | 219418869 | missense variant | T/A;C | snv | 5.5E-05 | 1 | ||
rs397517497 | 1.000 | 0.120 | 2 | 178790707 | splice donor variant | C/T | snv | 4.8E-05 | 5.6E-05 | 2 | |
rs397517587 | 2 | 178618768 | stop gained | G/A;T | snv | 4.1E-05 | 1 | ||||
rs779488376 | 10 | 74095825 | frameshift variant | A/- | del | 4.0E-05 | 7.0E-06 | 1 | |||
rs140614802 | 0.851 | 0.040 | 14 | 104741231 | missense variant | G/A | snv | 3.4E-05 | 2.8E-05 | 10 | |
rs373040154 | 0.925 | 0.160 | 2 | 178617388 | stop gained | G/A;T | snv | 3.2E-05 | 3 |