Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1555587401 | 1.000 | 0.120 | 17 | 43091910 | frameshift variant | C/- | del | 1 | |||
rs1555588460 | 1.000 | 0.120 | 17 | 43092472 | frameshift variant | G/- | delins | 1 | |||
rs1567788936 | 1.000 | 0.120 | 17 | 43091438 | missense variant | A/C | snv | 1 | |||
rs1567790190 | 1.000 | 0.120 | 17 | 43091762 | frameshift variant | GTGTTCTTAGACAGACACT/- | delins | 1 | |||
rs1567792938 | 1.000 | 0.120 | 17 | 43092435 | frameshift variant | T/- | del | 1 | |||
rs1567797661 | 1.000 | 0.120 | 17 | 43093592 | frameshift variant | TAGAACAACTATCAATTTGC/- | delins | 1 | |||
rs1567797787 | 1.000 | 0.120 | 17 | 43093628 | frameshift variant | -/A | delins | 1 | |||
rs1567798003 | 1.000 | 0.120 | 17 | 43093676 | frameshift variant | G/- | del | 1 | |||
rs1567800087 | 1.000 | 0.120 | 17 | 43094229 | frameshift variant | -/TGGCCAGTAAGTCTATTTTCTCTGAAGAACC | delins | 1 | |||
rs1567801576 | 1.000 | 0.120 | 17 | 43094624 | frameshift variant | C/- | del | 1 | |||
rs397509071 | 1.000 | 0.120 | 17 | 43104217 | stop gained | C/A;T | snv | 1 | |||
rs1566215870 | 1.000 | 0.120 | 13 | 32319208 | frameshift variant | GAAACCATCTTATAATCAG/- | delins | 1 | |||
rs1566221377 | 1.000 | 0.120 | 13 | 32330960 | stop gained | GA/CT | mnv | 1 | |||
rs1566228017 | 1.000 | 0.120 | 13 | 32337557 | frameshift variant | GTATCTGCACATTTACAGAGTAGTGTAGTTGTTTCTGATTGTAA/- | del | 1 | |||
rs1566231316 | 1.000 | 0.120 | 13 | 32339248 | frameshift variant | GTATCTTTTTGAAAGTTAAAGTACATGAAAATGTAGAAAAAGAA/- | delins | 1 | |||
rs1566232230 | 1.000 | 0.120 | 13 | 32339693 | frameshift variant | G/- | del | 1 | |||
rs1566233171 | 1.000 | 0.120 | 13 | 32340115 | frameshift variant | TTGCTGACATT/- | delins | 1 | |||
rs1566244975 | 1.000 | 0.120 | 13 | 32362681 | frameshift variant | A/- | delins | 1 | |||
rs1566260318 | 1.000 | 0.120 | 13 | 32397046 | splice donor variant | T/C;G | snv | 1 | |||
rs1567779336 | 1.000 | 0.120 | 17 | 61743013 | missense variant | C/A | snv | 1 | |||
rs1314180672 | 1.000 | 0.120 | 11 | 125627605 | splice acceptor variant | A/G;T | snv | 7.0E-06 | 1 | ||
rs1565374246 | 1.000 | 0.120 | 11 | 125643864 | frameshift variant | CC/- | del | 1 | |||
rs772079899 | 1.000 | 0.120 | 11 | 125643806 | stop gained | C/G;T | snv | 4.0E-06; 1.2E-05 | 1 | ||
rs7206411 | 1.000 | 0.120 | 16 | 81619883 | non coding transcript exon variant | T/C | snv | 0.45 | 1 | ||
rs58355101 | 1.000 | 0.120 | 12 | 70257391 | intron variant | C/T | snv | 0.27 | 1 |