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 | 0.925 | 0.160 | 22 | 29636805 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 10154774 | splice acceptor variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 22 | 29668440 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 9 | 21971097 | frameshift variant | C/- | delins | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
1 | 1.000 | 0.080 | 9 | 22006096 | missense variant | C/G;T | snv | 4.2E-06; 8.4E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
3 | 0.882 | 0.080 | 17 | 7670624 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2006 | 2013 | |||
|
58 | 0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
7 | 0.807 | 0.200 | 3 | 10149805 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
13 | 0.732 | 0.160 | 17 | 61849946 | intron variant | A/C | snv | 0.15 | 0.020 | 1.000 | 2 | 2008 | 2018 | ||||
|
5 | 0.827 | 0.160 | 4 | 24795181 | intron variant | C/T | snv | 0.54 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
34 | 0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 | 0.020 | 1.000 | 2 | 2009 | 2016 | ||||
|
3 | 0.882 | 0.080 | 2 | 31362783 | intron variant | G/C | snv | 0.42 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
8 | 0.776 | 0.120 | 19 | 47680514 | missense variant | C/G;T | snv | 0.29 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
17 | 0.716 | 0.320 | 16 | 13935176 | missense variant | G/A | snv | 5.6E-02 | 5.3E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
41 | 0.605 | 0.600 | 8 | 89978251 | missense variant | C/G | snv | 0.35 | 0.31 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
8 | 0.807 | 0.120 | 20 | 5118990 | intron variant | G/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.851 | 0.080 | 1 | 45340381 | 5 prime UTR variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
113 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 0.882 | 0.080 | 10 | 21541175 | intron variant | A/G | snv | 0.31 | 0.810 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 10 | 102550019 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
5 | 0.827 | 0.160 | 11 | 67487147 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
54 | 0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 | 0.020 | 0.500 | 2 | 2013 | 2020 | ||||
|
4 | 0.851 | 0.080 | 7 | 129210500 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 |