Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||||
|
0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.080 | 9 | 21974571 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.080 | 22 | 50523735 | missense variant | A/G | snv | 8.0E-06 |
|
0.010 | < 0.001 | 1 | 2007 | 2007 | ||||||||
|
0.776 | 0.240 | 14 | 75047125 | missense variant | G/A | snv | 0.40 | 0.43 |
|
0.010 | < 0.001 | 1 | 2004 | 2004 | |||||||
|
0.695 | 0.240 | 10 | 133526341 | non coding transcript exon variant | C/T | snv | 3.1E-02 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.120 | 18 | 48932953 | intron variant | C/T | snv | 0.52 |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | ||||||||
|
0.649 | 0.320 | 5 | 1295234 | upstream gene variant | A/G | snv | 0.25 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 14 | 75047123 | missense variant | T/C | snv | 1.1E-02 | 1.5E-02 |
|
0.010 | < 0.001 | 1 | 2004 | 2004 | |||||||
|
0.882 | 0.120 | 1 | 226225766 | missense variant | T/C;G | snv | 2.8E-05; 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
0.752 | 0.280 | 1 | 45329400 | missense variant | C/T | snv | 2.0E-05 | 2.8E-05 |
|
0.010 | < 0.001 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.080 | 7 | 988812 | missense variant | C/T | snv | 0.21 | 0.17 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | |||||||
|
0.525 | 0.800 | 4 | 153705165 | missense variant | G/A | snv | 1.7E-02 | 1.8E-02 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | |||||||
|
0.683 | 0.480 | 17 | 47283364 | missense variant | T/C | snv | 0.12 | 0.13 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | |||||||
|
0.827 | 0.160 | 11 | 13492506 | stop gained | G/A;T | snv | 4.0E-06; 0.16 |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.120 | 8 | 64580966 | missense variant | C/T | snv |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | |||||||||
|
0.633 | 0.560 | 7 | 101132046 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.120 | 19 | 41332206 | missense variant | G/A;C | snv | 2.8E-05; 8.0E-06 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | ||||||||
|
0.732 | 0.120 | 6 | 160419220 | intron variant | G/A;T | snv |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | |||||||||
|
0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 |
|
0.030 | 0.333 | 3 | 2011 | 2014 | |||||||
|
0.716 | 0.280 | 2 | 38075247 | missense variant | G/C | snv | 0.31 | 0.36 |
|
0.020 | 0.500 | 2 | 2010 | 2014 | |||||||
|
0.645 | 0.280 | 17 | 39723335 | missense variant | A/G;T | snv | 0.20 |
|
0.020 | 0.500 | 2 | 2002 | 2019 | ||||||||
|
0.851 | 0.120 | 3 | 9765892 | splice acceptor variant | T/C | snv | 4.0E-06 |
|
0.020 | 0.500 | 2 | 2005 | 2009 | ||||||||
|
0.807 | 0.120 | 11 | 48125070 | missense variant | G/A | snv | 0.18 | 0.19 |
|
0.020 | 0.500 | 2 | 2010 | 2019 | |||||||
|
0.807 | 0.120 | 11 | 48123823 | missense variant | A/C | snv | 0.17 | 0.15 |
|
0.020 | 0.500 | 2 | 2008 | 2019 |