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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.827 | 0.120 | 17 | 1754359 | missense variant | G/A | snv | 0.22 | 0.20 | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||
|
40 | 0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||
|
46 | 0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||
|
10 | 0.752 | 0.400 | 1 | 67253446 | intron variant | G/A | snv | 0.41 | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||
|
2 | 1.000 | 0.080 | 4 | 177397037 | intergenic variant | C/A;T | snv | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||||
|
11 | 0.763 | 0.280 | 17 | 7630105 | 5 prime UTR variant | G/A | snv | 0.18 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 16 | 56981633 | intron variant | C/A;T | snv | 4.0E-06; 0.32; 4.0E-06 | 0.010 | < 0.001 | 1 | 2005 | 2005 | ||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 14 | 20452590 | intron variant | C/G;T | snv | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||||
|
18 | 0.732 | 0.400 | 4 | 55113391 | missense variant | C/A;T | snv | 4.0E-06; 0.11 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
6 | 0.807 | 0.080 | 1 | 7929506 | intron variant | C/A;T | snv | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||
|
78 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 6 | 31271690 | stop gained | C/T | snv | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||||
|
65 | 0.566 | 0.840 | 5 | 159315942 | 3 prime UTR variant | T/G | snv | 0.26 | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||
|
2 | 1.000 | 0.080 | 7 | 99768693 | intron variant | G/A | snv | 3.2E-02 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
5 | 0.827 | 0.280 | 10 | 67907144 | intron variant | A/G | snv | 7.1E-02 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
7 | 0.790 | 0.320 | 10 | 67917073 | 3 prime UTR variant | T/C | snv | 2.4E-02 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | 12 | 6845700 | missense variant | G/A | snv | 4.8E-02 | 4.6E-02 | 0.010 | < 0.001 | 1 | 2007 | 2007 | |||
|
2 | 0.925 | 0.080 | 4 | 148079934 | 3 prime UTR variant | T/C | snv | 0.49 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
28 | 0.752 | 0.320 | 9 | 133278724 | upstream gene variant | C/T | snv | 0.81 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
7 | 0.807 | 0.280 | 4 | 55110466 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||
|
2 | 1.000 | 0.080 | 3 | 151338810 | synonymous variant | A/C | snv | 0.87 | 0.88 | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||
|
9 | 0.776 | 0.240 | 1 | 186671926 | 3 prime UTR variant | G/A;C;T | snv | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||||
|
3 | 0.925 | 0.120 | 14 | 52302622 | intergenic variant | T/A | snv | 0.57 | 0.010 | < 0.001 | 1 | 2006 | 2006 |