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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
102 | 0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
46 | 0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
5 | 0.851 | 0.080 | 9 | 21974571 | missense variant | C/T | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.080 | 22 | 50523735 | missense variant | A/G | snv | 8.0E-06 | 0.010 | < 0.001 | 1 | 2007 | 2007 | ||||
|
9 | 0.776 | 0.240 | 14 | 75047125 | missense variant | G/A | snv | 0.40 | 0.43 | 0.010 | < 0.001 | 1 | 2004 | 2004 | |||
|
20 | 0.695 | 0.240 | 10 | 133526341 | non coding transcript exon variant | C/T | snv | 3.1E-02 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.120 | 18 | 48932953 | intron variant | C/T | snv | 0.52 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
35 | 0.649 | 0.320 | 5 | 1295234 | upstream gene variant | A/G | snv | 0.25 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 14 | 75047123 | missense variant | T/C | snv | 1.1E-02 | 1.5E-02 | 0.010 | < 0.001 | 1 | 2004 | 2004 | |||
|
7 | 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 | ||||
|
10 | 0.752 | 0.280 | 1 | 45329400 | missense variant | C/T | snv | 2.0E-05 | 2.8E-05 | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||
|
2 | 0.925 | 0.080 | 7 | 988812 | missense variant | C/T | snv | 0.21 | 0.17 | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||
|
98 | 0.525 | 0.800 | 4 | 153705165 | missense variant | G/A | snv | 1.7E-02 | 1.8E-02 | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||
|
26 | 0.683 | 0.480 | 17 | 47283364 | missense variant | T/C | snv | 0.12 | 0.13 | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||
|
5 | 0.827 | 0.160 | 11 | 13492506 | stop gained | G/A;T | snv | 4.0E-06; 0.16 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.120 | 8 | 64580966 | missense variant | C/T | snv | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||||
|
35 | 0.633 | 0.560 | 7 | 101132046 | missense variant | C/T | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
3 | 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 | ||||
|
16 | 0.732 | 0.120 | 6 | 160419220 | intron variant | G/A;T | snv | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.030 | 0.333 | 3 | 2011 | 2014 | |||
|
16 | 0.716 | 0.280 | 2 | 38075247 | missense variant | G/C | snv | 0.31 | 0.36 | 0.020 | 0.500 | 2 | 2010 | 2014 | |||
|
34 | 0.645 | 0.280 | 17 | 39723335 | missense variant | A/G;T | snv | 0.20 | 0.020 | 0.500 | 2 | 2002 | 2019 | ||||
|
5 | 0.851 | 0.120 | 3 | 9765892 | splice acceptor variant | T/C | snv | 4.0E-06 | 0.020 | 0.500 | 2 | 2005 | 2009 | ||||
|
8 | 0.807 | 0.120 | 11 | 48125070 | missense variant | G/A | snv | 0.18 | 0.19 | 0.020 | 0.500 | 2 | 2010 | 2019 | |||
|
10 | 0.807 | 0.120 | 11 | 48123823 | missense variant | A/C | snv | 0.17 | 0.15 | 0.020 | 0.500 | 2 | 2008 | 2019 |