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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
55 | 0.597 | 0.680 | 14 | 61740839 | missense variant | C/T | snv | 8.8E-02 | 7.7E-02 | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||
|
4 | 0.851 | 0.120 | 10 | 95058349 | missense variant | T/A | snv | 1.6E-02 | 4.9E-02 | 0.010 | < 0.001 | 1 | 2007 | 2007 | |||
|
6 | 0.807 | 0.080 | 1 | 162066689 | upstream gene variant | G/A | snv | 8.6E-02 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
8 | 0.807 | 0.120 | 1 | 162065484 | upstream gene variant | T/C | snv | 0.22 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
9 | 0.790 | 0.080 | 5 | 80065442 | missense variant | G/C | snv | 0.17 | 0.17 | 0.010 | < 0.001 | 1 | 2004 | 2004 | |||
|
4 | 0.882 | 0.040 | 17 | 36064257 | upstream gene variant | A/G | snv | 0.22 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
7 | 0.882 | 0.040 | 12 | 6019277 | missense variant | T/A;C | snv | 4.0E-06; 0.69 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
10 | 0.776 | 0.160 | 17 | 4735268 | missense variant | G/A | snv | 0.47 | 0.41 | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||
|
6 | 0.807 | 0.080 | 1 | 7929506 | intron variant | C/A;T | snv | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||
|
4 | 0.851 | 0.120 | 3 | 186620038 | intron variant | T/C | snv | 0.46 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
11 | 0.776 | 0.200 | 9 | 122371228 | missense variant | C/T | snv | 5.9E-02 | 8.5E-02 | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||
|
16 | 0.742 | 0.160 | 3 | 148741608 | synonymous variant | C/T | snv | 0.49 | 0.41 | 0.010 | < 0.001 | 1 | 1994 | 1994 | |||
|
6 | 0.827 | 0.120 | 6 | 117301070 | missense variant | C/G;T | snv | 0.20 | 0.19 | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||
|
25 | 0.695 | 0.320 | 17 | 30117165 | 5 prime UTR variant | A/C;T | snv | 0.50; 3.1E-05 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.040 | 1 | 159714024 | missense variant | G/A | snv | 1.4E-03 | 1.6E-03 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
4 | 0.851 | 0.080 | 6 | 169217631 | splice region variant | A/C | snv | 0.22 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
4 | 0.851 | 0.120 | 9 | 137018032 | missense variant | A/C;G | snv | 0.97 | 0.96 | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||
|
9 | 0.807 | 0.200 | 3 | 138403280 | 3 prime UTR variant | C/A;T | snv | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||||
|
15 | 0.763 | 0.360 | 12 | 111681367 | intron variant | T/C | snv | 5.8E-03 | 0.020 | 0.500 | 2 | 2011 | 2011 | ||||
|
102 | 0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 | 0.020 | 0.500 | 2 | 2004 | 2009 | ||||
|
10 | 0.763 | 0.200 | 15 | 39589977 | missense variant | A/G | snv | 7.9E-02 | 8.0E-02 | 0.020 | 0.500 | 2 | 2003 | 2011 | |||
|
38 | 0.645 | 0.480 | 4 | 71742666 | intron variant | T/G | snv | 0.21 | 0.020 | 0.500 | 2 | 2014 | 2018 | ||||
|
18 | 0.695 | 0.360 | 17 | 64377836 | missense variant | C/G;T | snv | 0.020 | 0.500 | 2 | 2003 | 2005 | |||||
|
10 | 0.763 | 0.240 | 10 | 44258419 | downstream gene variant | T/C | snv | 0.24 | 0.020 | 0.500 | 2 | 2011 | 2012 | ||||
|
49 | 0.595 | 0.680 | 5 | 143399752 | missense variant | T/A;C | snv | 2.0E-02 | 0.020 | 0.500 | 2 | 2001 | 2003 |