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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
46 | 0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 | 0.900 | 1.000 | 14 | 2008 | 2018 | |||
|
19 | 0.689 | 0.600 | 1 | 67215986 | intron variant | T/G | snv | 0.37 | 0.720 | 1.000 | 3 | 2012 | 2018 | ||||
|
5 | 0.827 | 0.120 | 1 | 67256884 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
14 | 0.724 | 0.240 | 1 | 67203951 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.827 | 0.120 | 1 | 67237759 | intron variant | G/A | snv | 4.8E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.120 | 1 | 67242472 | intron variant | G/T | snv | 5.8E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
40 | 0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 | 0.030 | 0.667 | 3 | 2009 | 2018 | ||||
|
14 | 0.716 | 0.440 | 1 | 67228519 | intron variant | A/G;T | snv | 0.030 | 1.000 | 3 | 2009 | 2018 | |||||
|
9 | 0.776 | 0.360 | 1 | 67204530 | intron variant | G/A | snv | 0.30 | 0.020 | < 0.001 | 2 | 2013 | 2014 | ||||
|
10 | 0.752 | 0.320 | 1 | 67236843 | intron variant | T/G | snv | 4.4E-02 | 5.4E-02 | 0.020 | 1.000 | 2 | 2012 | 2018 | |||
|
2 | 0.925 | 0.040 | 1 | 67196939 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.882 | 0.080 | 1 | 67157615 | intron variant | G/A;T | snv | 5.7E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.827 | 0.240 | 1 | 67209833 | intron variant | C/T | snv | 0.30 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
10 | 0.752 | 0.400 | 1 | 67253446 | intron variant | G/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.790 | 0.360 | 1 | 67189464 | intron variant | G/A | snv | 0.29 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
34 | 0.637 | 0.600 | 1 | 67168129 | missense variant | G/T | snv | 0.52 | 0.51 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.040 | 1 | 67255184 | intron variant | T/C | snv | 0.78 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
12 | 0.742 | 0.400 | 1 | 67219704 | missense variant | T/A;C | snv | 0.88 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.080 | 1 | 67182913 | missense variant | G/A | snv | 7.3E-03 | 4.5E-03 | 0.010 | 1.000 | 1 | 2013 | 2013 |