Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs773080572 | 1.000 | 0.040 | 3 | 1295712 | stop gained | C/A | snv | 1 | |||
rs1553368900 | 1.000 | 0.040 | 2 | 50925810 | splice acceptor variant | CACAATCCAGAAACCAACAAATGTTCAGAAAGAAGTTCAACTTACCATCTAACTTCAAGATGTACCCTATTAGTACTAAGAAATAAAGGACAAATGAGAGTTGGAAAAATAAGGTAGAAAGCACCCACCTTCCACATTGTTGTCTTCTGAAAGCACATGACAAGGAGGGAGAGAAAAGGAAAAACATTCATTAAGCAGCATGCAGACTGGACCTTGCCTTTGCATGTCTTCCTCATGCAAGGCACCAAACACATCATGCAAGTGCTCCATCACTATCATTCAAGGGGGAAAACAAAATCACAGGGAAGCAGGTTCCCTCCCATTGGCAGCATTGATAGGAAGTGAGACAAACTTTCATAATACTGCCATGCCCTGTGCAAAGAGTTTTTAAAAAAATCTTTCAACTACCCAGTATAAAGCAAACATTATTGTTATTACATGTTGCTGGTG/- | del | 1 | |||
rs1057518850 | 1.000 | 0.040 | X | 147928320 | splice acceptor variant | A/G | snv | 2 | |||
rs879255530 | 0.925 | 0.160 | 14 | 28767832 | missense variant | A/T | snv | 2 | |||
rs1569485503 | 1.000 | 0.040 | X | 71167697 | missense variant | C/T | snv | 2 | |||
rs1553510171 | 1.000 | 0.040 | 2 | 161416881 | frameshift variant | C/- | del | 2 | |||
rs1553510217 | 1.000 | 0.040 | 2 | 161417083 | missense variant | A/T | snv | 2 | |||
rs1553510280 | 1.000 | 0.040 | 2 | 161417690 | frameshift variant | GTTTTAA/- | delins | 2 | |||
rs1553510313 | 1.000 | 0.040 | 2 | 161417827 | stop gained | C/T | snv | 2 | |||
rs1553510385 | 1.000 | 0.040 | 2 | 161418249 | stop gained | G/A | snv | 2 | |||
rs1553510680 | 1.000 | 0.040 | 2 | 161420241 | frameshift variant | -/G | delins | 2 | |||
rs1553511175 | 1.000 | 0.040 | 2 | 161423547 | frameshift variant | ACG/CA | delins | 2 | |||
rs1553511216 | 1.000 | 0.040 | 2 | 161423815 | frameshift variant | -/GCCCGCAGTC | delins | 2 | |||
rs1553511226 | 1.000 | 0.040 | 2 | 161423830 | frameshift variant | GC/- | delins | 2 | |||
rs762713626 | 1.000 | 0.040 | 2 | 161420222 | missense variant | C/G;T | snv | 4.0E-06 | 7.0E-06 | 2 | |
rs727504031 | 0.925 | 0.200 | X | 43949981 | missense variant | G/A | snv | 3 | |||
rs1553510301 | 0.925 | 0.040 | 2 | 161417794 | missense variant | T/C | snv | 3 | |||
rs869312678 | 0.925 | 0.160 | 22 | 42209920 | frameshift variant | CA/- | delins | 3 | |||
rs777843533 | 0.925 | 0.160 | 10 | 79307487 | frameshift variant | -/C | delins | 3 | |||
rs1554904772 | 0.882 | 0.280 | 11 | 1443490 | missense variant | G/A | snv | 4 | |||
rs766858016 | 0.882 | 0.200 | 2 | 25247710 | stop gained | T/A;G | snv | 4.0E-06 | 4 | ||
rs869312699 | 0.925 | 0.160 | 11 | 120986102 | protein altering variant | CTGGCGCAGGAGGCC/GCT | delins | 4 | |||
rs534517447 | 0.925 | 0.160 | 11 | 120956935 | missense variant | G/A | snv | 2.9E-05 | 7.0E-06 | 4 | |
rs1555103646 | 1.000 | 0.040 | 12 | 13569964 | missense variant | C/A | snv | 4 | |||
rs1085308042 | 0.882 | 0.120 | 10 | 87894076 | missense variant | G/A | snv | 4 |