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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.882 | 0.120 | 1 | 226986536 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
6 | 0.925 | 0.080 | 9 | 132326375 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.200 | 13 | 36314259 | frameshift variant | -/T | delins | 1.2E-05 | 0.700 | 0 | |||||||
|
5 | 1.000 | 0.160 | 8 | 60266044 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
3 | 1.000 | 0.080 | 1 | 244842055 | missense variant | A/C;G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 12 | 13571891 | missense variant | A/C;G | snv | 0.700 | 0 | |||||||||
|
3 | 1.000 | 0.040 | 12 | 6936663 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
3 | 1.000 | 0.120 | 2 | 44280805 | missense variant | A/G | snv | 2.1E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
12 | 0.807 | 0.320 | 3 | 193643378 | missense variant | A/G | snv | 6.2E-04 | 5.7E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
5 | 0.925 | 0.080 | 4 | 25127263 | splice acceptor variant | AAAGATATGGGATTGTGAGGTGTATGCAACAGTCTTTCATTGTAGGCTTCTGACAACTTCTTTATTTGGTTGGACAAATATGAAAACATTTCCT/- | delins | 0.700 | 0 | ||||||||
|
46 | 0.695 | 0.400 | 10 | 129957324 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
8 | 0.851 | 0.120 | 12 | 4912055 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
8 | 0.882 | 0.160 | 20 | 4699534 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
4 | 0.925 | 0.200 | 9 | 32973507 | stop gained | C/A;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
17 | 0.776 | 0.320 | 8 | 63065904 | splice region variant | C/A;T | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||
|
19 | 0.790 | 0.320 | 19 | 41968837 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
22 | 0.724 | 0.400 | 15 | 89323426 | missense variant | C/G | snv | 9.7E-04 | 7.9E-04 | 0.030 | 1.000 | 3 | 2007 | 2010 | |||
|
3 | 1.000 | 0.080 | 19 | 53889655 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
6 | 0.851 | 0.320 | 11 | 94476318 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
15 | 0.807 | 0.240 | 19 | 13235666 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
41 | 0.716 | 0.520 | 16 | 89546737 | missense variant | C/T | snv | 2.9E-03 | 3.5E-03 | 0.720 | 1.000 | 3 | 2016 | 2019 | |||
|
3 | 1.000 | 0.080 | 1 | 226982996 | stop gained | C/T | snv | 4.5E-05 | 5.6E-05 | 0.020 | 0.500 | 2 | 2010 | 2012 | |||
|
4 | 0.925 | 0.120 | 19 | 50323694 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
11 | 0.790 | 0.160 | 19 | 13262780 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
31 | 0.701 | 0.360 | 15 | 89327201 | missense variant | C/T | snv | 5.1E-04 | 6.7E-04 | 0.010 | 1.000 | 1 | 2007 | 2007 |