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 | |
rs749838192 | 22 | 50524395 | frameshift variant | -/TGAGTCACTGCTGCATGCT | ins | 5.8E-04; 4.2E-06 | 8.9E-04 | 1 | |||
rs6716782 | 2 | 178706956 | splice acceptor variant | T/G | snv | 1.3E-04 | 5.9E-04 | 1 | |||
rs202234172 | 2 | 178689897 | splice acceptor variant | C/T | snv | 3.4E-04 | 4.7E-04 | 1 | |||
rs143139258 | 0.882 | 0.080 | 12 | 110913097 | missense variant | T/G | snv | 2.0E-04 | 2.9E-04 | 4 | |
rs781036800 | 10 | 74111991 | frameshift variant | CT/- | del | 1.3E-04 | 1 | ||||
rs587782987 | 2 | 178611274 | splice region variant | G/A | snv | 1.1E-04; 4.1E-06 | 1.0E-04 | 1 | |||
rs137853197 | 0.925 | 0.040 | 1 | 77942756 | missense variant | A/G | snv | 7.2E-05 | 1.0E-04 | 3 | |
rs72646846 | 0.925 | 0.160 | 2 | 178589849 | stop gained | G/A | snv | 7.6E-05 | 6.3E-05 | 4 | |
rs563762318 | 10 | 110831154 | missense variant | G/A | snv | 2.8E-04 | 6.3E-05 | 1 | |||
rs397517497 | 1.000 | 0.120 | 2 | 178790707 | splice donor variant | C/T | snv | 4.8E-05 | 5.6E-05 | 2 | |
rs397517735 | 0.925 | 0.160 | 2 | 178559309 | splice donor variant | A/T | snv | 4.4E-06 | 4.9E-05 | 4 | |
rs574660186 | 0.807 | 0.200 | 2 | 178579702 | stop gained | G/A;C | snv | 1.6E-05 | 3.5E-05 | 7 | |
rs753988867 | 1 | 156137180 | missense variant | C/T | snv | 2.1E-05 | 3.5E-05 | 1 | |||
rs727504851 | 0.925 | 0.160 | 2 | 178613159 | splice donor variant | A/- | del | 1.6E-05 | 2.8E-05 | 3 | |
rs140614802 | 0.851 | 0.040 | 14 | 104741231 | missense variant | G/A | snv | 3.4E-05 | 2.8E-05 | 10 | |
rs397517776 | 0.925 | 0.160 | 2 | 178539765 | frameshift variant | CT/- | del | 2.1E-05 | 3 | ||
rs730881097 | 1 | 201363352 | missense variant | C/A | snv | 8.0E-06 | 2.1E-05 | 1 | |||
rs140743001 | 1.000 | 0.040 | 2 | 178630250 | stop gained | G/A | snv | 8.1E-06 | 1.4E-05 | 2 | |
rs727504499 | 2 | 178632294 | stop gained | G/A | snv | 1.4E-05 | 1 | ||||
rs748369265 | 2 | 178601788 | splice acceptor variant | C/T | snv | 9.3E-05 | 1.4E-05 | 1 | |||
rs727505284 | 0.925 | 0.160 | 2 | 178565416 | stop gained | G/A | snv | 8.0E-06 | 1.4E-05 | 3 | |
rs397517244 | 10 | 74072792 | stop gained | C/T | snv | 1.2E-05 | 1.4E-05 | 1 | |||
rs869312054 | 2 | 178593566 | splice donor variant | A/G | snv | 1.4E-05 | 2 | ||||
rs377491278 | 14 | 23427773 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 | 1 |