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 | 0.120 | 18 | 51078285 | missense variant | G/C | snv | 0.800 | 0 | ||||||||
|
19 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.740 | 1.000 | 0 | 2003 | 2019 | ||||
|
14 | 0.724 | 0.560 | 12 | 25209904 | missense variant | T/A;C | snv | 0.700 | 0 | ||||||||
|
12 | 0.752 | 0.360 | 17 | 7676381 | splice donor variant | C/A;G | snv | 0.700 | 0 | ||||||||
|
12 | 0.752 | 0.360 | 17 | 7675052 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
42 | 0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 18 | 51065539 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 18 | 51067115 | stop gained | C/G;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 18 | 51078351 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7676264 | missense variant | C/A;G | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 19 | 1207021 | stop gained | C/A;G;T | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 12 | 51991357 | splice acceptor variant | ATGAAAAAAAATGTTCCTGGCTACTCTTTTGTATTTCTTTTTGTTTAGTTGTTTTGTTTGAGACAGAGTCTTGCACTCTTGTCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAACCTCTGCCTCCAGGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGGTGTTTGCCACCATGCCTGGTTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCGTGTTGGCGGGGCTGGTTTCAAACTACTGATCTCAGGTGATCCGCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCGGCCCCTTTTGTGTATTTCTTGTTCCATACTTAGAATTAACTAACTTTCTAAGGAACCTTAGGGGGTAGTGGTATTTACAGAGCACAGTGTAGGTTTTGTCACCGGCTTCTGAGTAATCTTTTCCTGCTGTTGATAACTCAGGTAGATACTTTCTTTTCTCCCAGGAGTCCATGAAGAATATCAGCTGCCATATTACGACTTAGTGCCCTCTGACCCTTCCATTGAGGAAATGCGAAAGGTTGTATGTGATCAGAAGCTGCGTCCCAACATCCCCAACTGGTGGCAGAGTTATGAGGTAAGAAGCTGGCCTCCTGCGGCT/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.807 | 0.480 | 18 | 51078306 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
39 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 0.700 | 0 | |||||||
|
16 | 0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
13 | 0.742 | 0.520 | 18 | 51065549 | missense variant | G/A;C;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 12 | 51986840 | frameshift variant | GATGA/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 19 | 1220630 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 19 | 1222998 | frameshift variant | AA/-;A | delins | 0.700 | 0 | ||||||||
|
13 | 0.716 | 0.360 | 17 | 7673821 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.240 | 19 | 1220702 | stop gained | C/A;G | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.480 | 18 | 51067121 | frameshift variant | CAGA/- | delins | 0.700 | 0 |