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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.827 | 0.120 | 2 | 54168122 | intron variant | G/A | snv | 7.3E-02 | 0.020 | 1.000 | 2 | 2015 | 2016 | ||||
|
7 | 0.827 | 0.200 | 9 | 113391611 | missense variant | C/G | snv | 8.3E-02 | 6.1E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
12 | 0.827 | 0.120 | 2 | 29209798 | missense variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
4 | 0.925 | 0.080 | 2 | 29222584 | missense variant | C/G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
4 | 0.925 | 0.120 | 2 | 29220776 | missense variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
39 | 0.627 | 0.400 | 11 | 108304735 | missense variant | G/A | snv | 0.11 | 0.11 | 0.020 | 1.000 | 2 | 2011 | 2015 | |||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.800 | 1.000 | 21 | 2011 | 2019 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.100 | 1.000 | 18 | 2011 | 2019 | |||||
|
24 | 0.677 | 0.400 | 7 | 140753354 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
11 | 0.763 | 0.360 | 7 | 140753355 | missense variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
13 | 0.752 | 0.240 | 17 | 43094464 | missense variant | T/C | snv | 4.7E-02 | 4.6E-02 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
11 | 0.752 | 0.240 | 17 | 43094464 | frameshift variant | T/- | del | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
4 | 0.882 | 0.120 | 13 | 32380096 | stop gained | T/A;C | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
9 | 0.807 | 0.200 | 1 | 15506048 | missense variant | T/A;C | snv | 0.53 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
14 | 0.732 | 0.440 | 11 | 69648142 | splice region variant | G/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.882 | 0.040 | 9 | 21974725 | missense variant | C/T | snv | 8.2E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
60 | 0.614 | 0.520 | 9 | 22125504 | intron variant | G/C | snv | 0.41 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
24 | 0.683 | 0.440 | 9 | 22068653 | intron variant | G/A | snv | 0.64 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
26 | 0.683 | 0.360 | 3 | 41224610 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
12 | 0.763 | 0.240 | 3 | 41224645 | missense variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 2 | 224557736 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
88 | 0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
16 | 0.732 | 0.360 | 15 | 74724835 | intron variant | C/A | snv | 0.46 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
36 | 0.630 | 0.640 | 15 | 74719300 | downstream gene variant | A/G;T | snv | 0.18 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 14 | 100734308 | synonymous variant | T/A;C | snv | 0.63 | 0.010 | 1.000 | 1 | 2004 | 2004 |