| Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 19 | 54123836 | stop gained | C/A;G;T | snv | 6.8E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 19 | 54118279 | start lost | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 54124637 | frameshift variant | -/GTGC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 54128119 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 54128359 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 54128904 | splice acceptor variant | AGGCCTCAGCCGGGCCGAGTGGGTACCGGAGCAGGTGCCCGTGGGACCGGCCGGCTGGTGACCGCTGGGCTTCGGGCTGGTGGAGGGGGTGCCTCGGTGGCTGGAGGGCAGGGCCTGGTCGCTGAACTGCAGGGCGCCTCCTCTCCCCCCTAGATCGAGGAGGACGCCTACCAGGAGGACCTGGGATTCAGCCTGGGCCACCT/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 54123783 | stop gained | G/A;T | snv | 8.1E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 19 | 54124565 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 54118625 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.882 | 0.080 | 19 | 54123867 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.080 | 19 | 54128187 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 |