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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.925 | 0.080 | X | 15568841 | intron variant | C/T | snv | 0.020 | 1.000 | 2 | 2018 | 2019 | |||||
|
18 | 0.695 | 0.360 | 10 | 94781859 | synonymous variant | G/A;C | snv | 0.18 | 0.020 | 1.000 | 2 | 2012 | 2017 | ||||
|
4 | 0.925 | 0.120 | X | 15583220 | intron variant | A/G | snv | 9.1E-02 | 0.020 | 1.000 | 2 | 2018 | 2019 | ||||
|
3 | 0.925 | 0.080 | X | 15558483 | downstream gene variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2018 | 2019 | |||||
|
16 | 0.742 | 0.160 | 3 | 148741608 | synonymous variant | C/T | snv | 0.49 | 0.41 | 0.020 | 0.500 | 2 | 1994 | 2018 | |||
|
1 | 1.000 | 0.040 | X | 116173577 | 3 prime UTR variant | A/G | snv | 0.020 | 0.500 | 2 | 2006 | 2014 | |||||
|
25 | 0.701 | 0.360 | 11 | 17388025 | stop gained | T/A;C | snv | 0.64 | 0.020 | 1.000 | 2 | 2017 | 2019 | ||||
|
7 | 0.807 | 0.240 | 13 | 77901178 | synonymous variant | T/C;G | snv | 0.57 | 0.020 | 1.000 | 2 | 2007 | 2017 | ||||
|
14 | 0.742 | 0.240 | 1 | 169726729 | missense variant | G/A | snv | 4.5E-02 | 3.3E-02 | 0.020 | 1.000 | 2 | 2012 | 2018 | |||
|
6 | 0.827 | 0.120 | 19 | 50820217 | missense variant | C/G | snv | 0.69 | 0.67 | 0.020 | 1.000 | 2 | 2007 | 2011 | |||
|
82 | 0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 | 0.020 | 1.000 | 2 | 2001 | 2007 | |||
|
2 | 1.000 | 0.040 | 11 | 57238490 | upstream gene variant | A/G;T | snv | 0.020 | 1.000 | 2 | 2010 | 2016 | |||||
|
4 | 0.882 | 0.160 | 8 | 26770618 | missense variant | A/G | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2010 | 2016 | ||||
|
28 | 0.667 | 0.440 | 4 | 23814039 | missense variant | C/T | snv | 0.31 | 0.26 | 0.020 | 0.500 | 2 | 2004 | 2014 | |||
|
18 | 0.708 | 0.400 | 15 | 51210789 | 3 prime UTR variant | G/A | snv | 0.45 | 0.43 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
1 | 1.000 | 0.040 | 2 | 237907946 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.120 | 1 | 70439117 | missense variant | G/T | snv | 0.28 | 0.24 | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||
|
19 | 0.701 | 0.520 | 3 | 49358250 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.040 | 1 | 42153468 | synonymous variant | A/C;G;T | snv | 6.4E-05; 0.21; 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
4 | 0.851 | 0.120 | 1 | 119514623 | missense variant | C/A | snv | 0.75 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.925 | 0.080 | 2 | 202565733 | 3 prime UTR variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
88 | 0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
43 | 0.623 | 0.600 | 3 | 49357401 | missense variant | G/A | snv | 0.28 | 0.30 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 0.925 | 0.040 | 10 | 44370528 | 3 prime UTR variant | A/G | snv | 5.4E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
19 | 0.695 | 0.360 | 22 | 42130692 | missense variant | G/A | snv | 0.21 | 0.19 | 0.010 | 1.000 | 1 | 2015 | 2015 |