Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs965084 | 1.000 | 0.040 | 3 | 125415 | intron variant | G/C | snv | 0.31 | 1 | ||
rs9819101 | 1.000 | 0.040 | 3 | 124824 | intron variant | G/A;C | snv | 0.35 | 1 | ||
rs1567558314 | 0.807 | 0.080 | 17 | 10643215 | intron variant | CTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTGGCTATGCACTTTTTTTTTTCTTTT/- | delins | 7 | |||
rs1350968647 | 0.851 | 0.080 | 17 | 10642825 | splice donor variant | C/T | snv | 7.0E-06 | 5 | ||
rs763944786 | 0.925 | 0.080 | 19 | 38469119 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 | 5 | |
rs771785420 | 0.851 | 0.120 | 16 | 81357848 | missense variant | C/G;T | snv | 4.0E-06 | 8 | ||
rs797045164 | 0.851 | 0.120 | 2 | 240785063 | missense variant | G/A | snv | 8 | |||
rs1567552713 | 0.827 | 0.120 | 17 | 10633590 | splice donor variant | C/T | snv | 7 | |||
rs1057518891 | 0.851 | 0.120 | 8 | 60854479 | stop gained | C/T | snv | 6 | |||
rs1057518908 | 0.882 | 0.120 | 12 | 47984112 | missense variant | C/T | snv | 6 | |||
rs1567564042 | 0.827 | 0.120 | 17 | 10654924 | stop gained | A/C | snv | 6 | |||
rs786204875 | 0.882 | 0.120 | 10 | 87960913 | stop gained | G/A;T | snv | 4 | |||
rs281865136 | 0.882 | 0.120 | 10 | 62813562 | missense variant | C/T | snv | 1 | |||
rs61751364 | 0.882 | 0.120 | X | 154030944 | frameshift variant | CGGAT/- | delins | 1 | |||
rs864622273 | 0.882 | 0.120 | 10 | 62813412 | missense variant | C/T | snv | 4.0E-06 | 1 | ||
rs28937900 | 0.752 | 0.160 | 19 | 46756276 | missense variant | C/A;T | snv | 1.0E-03 | 33 | ||
rs368900406 | 0.827 | 0.160 | 2 | 27312255 | non coding transcript exon variant | A/C | snv | 8.0E-06 | 2.1E-05 | 27 | |
rs1555735545 | 0.851 | 0.160 | 19 | 46746071 | 5 prime UTR variant | G/A | snv | 22 | |||
rs797044849 | 0.807 | 0.160 | 12 | 13567164 | missense variant | C/A;G;T | snv | 4.0E-06 | 17 | ||
rs1114167445 | 0.851 | 0.160 | 19 | 40504064 | stop gained | C/T | snv | 8.0E-06 | 15 | ||
rs557849165 | 0.776 | 0.160 | 17 | 10656089 | splice donor variant | C/T | snv | 1.2E-03 | 9 | ||
rs61751362 | 0.790 | 0.160 | X | 154030948 | stop gained | G/A;C | snv | 1.6E-05 | 8 | ||
rs886041287 | 0.882 | 0.160 | 2 | 178535594 | frameshift variant | -/GT | delins | 8 | |||
rs140119177 | 0.851 | 0.160 | 9 | 93447639 | missense variant | G/A | snv | 6.8E-05 | 2.2E-04 | 7 | |
rs1085307132 | 0.882 | 0.160 | 8 | 143817668 | frameshift variant | -/TTTT | delins | 5 |