Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1114167445 | 0.851 | 0.160 | 19 | 40504064 | stop gained | C/T | snv | 8.0E-06 | 15 | ||
rs1556424691 | 0.851 | 0.200 | MT | 15923 | non coding transcript exon variant | A/G | snv | 13 | |||
rs121434589 | 0.851 | 0.200 | 17 | 10535137 | missense variant | C/T | snv | 8 | |||
rs35049558 | 0.851 | 0.040 | 12 | 110914287 | frameshift variant | -/CT | ins | 8.0E-06 | 8 | ||
rs137853305 | 0.851 | 0.120 | 9 | 35685529 | missense variant | G/A | snv | 7 | |||
rs397514677 | 0.851 | 0.400 | 11 | 4023928 | missense variant | A/G | snv | 6 | |||
rs57983345 | 0.851 | 0.160 | 1 | 156115034 | missense variant | A/G | snv | 6 | |||
rs1559931177 | 0.827 | 0.120 | 3 | 49047207 | stop gained | G/A | snv | 34 | |||
rs368900406 | 0.827 | 0.160 | 2 | 27312255 | non coding transcript exon variant | A/C | snv | 8.0E-06 | 2.1E-05 | 27 | |
rs80338800 | 0.827 | 0.120 | 15 | 42387803 | frameshift variant | A/- | delins | 21 | |||
rs1566785444 | 0.827 | 0.200 | 14 | 77025671 | frameshift variant | C/- | delins | 20 | |||
rs1555377415 | 0.827 | 0.200 | 14 | 77027274 | stop gained | G/C | snv | 18 | |||
rs113994099 | 0.827 | 0.240 | 15 | 89320883 | missense variant | T/C | snv | 10 | |||
rs28937581 | 0.827 | 0.160 | 2 | 71570300 | missense variant | G/T | snv | 1.2E-05 | 9 | ||
rs782316919 | 0.827 | 0.160 | 9 | 133351970 | frameshift variant | AG/- | delins | 8.4E-05 | 9 | ||
rs761051758 | 0.827 | 0.160 | 7 | 76302805 | synonymous variant | G/A | snv | 8.5E-06 | 7 | ||
rs267607261 | 0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 | 28 | ||
rs80359473 | 0.807 | 0.400 | 13 | 32339288 | frameshift variant | GAAA/- | delins | 12 | |||
rs59962885 | 0.807 | 0.200 | 2 | 219420939 | missense variant | G/A;C;T | snv | 6.8E-05 | 11 | ||
rs104894369 | 0.807 | 0.080 | 12 | 110914287 | missense variant | C/A;T | snv | 10 | |||
rs142000963 | 0.807 | 0.240 | 1 | 156138719 | missense variant | C/A;T | snv | 1.2E-03 | 8 | ||
rs1555206402 | 0.790 | 0.320 | 11 | 119093274 | stop lost | GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- | delins | 26 | |||
rs61672878 | 0.776 | 0.200 | 1 | 156136094 | missense variant | G/A;T | snv | 11 | |||
rs80338957 | 0.776 | 0.160 | 17 | 63957427 | missense variant | G/A | snv | 11 | |||
rs1562846694 | 0.763 | 0.320 | 7 | 100643252 | inframe deletion | TTCGCTCCACGCACT/- | delins | 32 |