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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 20 | 3889103 | start lost | G/A | snv | 6.7E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1 | 17011736 | start lost | C/A | snv | 1.3E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 16 | 74719132 | missense variant | C/G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 6 | 43640526 | missense variant | G/A | snv | 1.0E-04 | 1.4E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 2 | 171434679 | synonymous variant | C/T | snv | 7.4E-04 | 7.7E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 17 | 42562625 | start lost | G/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
3 | 2 | 86144399 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
|
4 | 22 | 46235326 | missense variant | G/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 17 | 42562414 | start lost | G/A | snv | 1.6E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 1 | 202596928 | inframe deletion | ATAGTC/- | delins | 0.700 | 0 | ||||||||||
|
6 | X | 32573812 | stop gained | C/A;G;T | snv | 5.5E-06; 5.5E-06 | 0.700 | 0 | |||||||||
|
6 | 14 | 54844115 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
|
3 | 15 | 42387891 | splice region variant | G/A | snv | 0.700 | 0 | ||||||||||
|
70 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
58 | 0.605 | 0.520 | 21 | 31667299 | missense variant | G/A;C;T | snv | 1.2E-05; 8.0E-06 | 0.020 | 1.000 | 2 | 2004 | 2011 | ||||
|
47 | 0.662 | 0.440 | 12 | 112450368 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
43 | 0.701 | 0.520 | X | 154030553 | splice acceptor variant | TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- | delins | 0.700 | 0 | ||||||||
|
45 | 0.708 | 0.440 | 19 | 1242559 | missense variant | C/T | snv | 6.7E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
41 | 0.716 | 0.520 | 16 | 89546737 | missense variant | C/T | snv | 2.9E-03 | 3.5E-03 | 0.700 | 0 | ||||||
|
18 | 0.724 | 0.280 | 7 | 150948446 | missense variant | T/A;C;G | snv | 1.3E-05; 0.18; 8.4E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
17 | 0.724 | 0.280 | 7 | 150948446 | frameshift variant | -/GTCCG | ins | 4.4E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
17 | 0.724 | 0.280 | 7 | 150948445 | frameshift variant | CT/G | delins | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
15 | 0.732 | 0.160 | 21 | 31663857 | missense variant | A/G | snv | 0.020 | 1.000 | 2 | 1996 | 2007 | |||||
|
19 | 0.732 | 0.360 | 11 | 17387917 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
14 | 0.742 | 0.200 | 9 | 35065352 | missense variant | G/A;C | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2009 | 2013 |