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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.100 | 1.000 | 10 | 2008 | 2019 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.100 | 1.000 | 10 | 2008 | 2019 | |||||
|
15 | 0.742 | 0.200 | 9 | 97793827 | intron variant | A/G;T | snv | 0.070 | 0.714 | 7 | 2014 | 2018 | |||||
|
78 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 0.030 | 1.000 | 3 | 2013 | 2014 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.020 | 1.000 | 2 | 2015 | 2015 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.020 | 1.000 | 2 | 2015 | 2015 | |||||
|
29 | 0.658 | 0.400 | 8 | 127472793 | intron variant | A/C;T | snv | 0.020 | 0.500 | 2 | 2011 | 2013 | |||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.020 | 1.000 | 2 | 2015 | 2015 | |||||
|
35 | 0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
31 | 0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
10 | 0.763 | 0.280 | 12 | 57768302 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
59 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
7 | 0.790 | 0.200 | 14 | 80211923 | 5 prime UTR variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 7 | 30497778 | missense variant | A/C;G | snv | 8.1E-06; 8.1E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 5 | 78910960 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
2 | 0.925 | 16 | 13806476 | intergenic variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
53 | 0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
27 | 0.658 | 0.280 | 10 | 43114671 | missense variant | G/A;C;T | snv | 0.21 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
11 | 0.776 | 0.200 | 11 | 108272729 | missense variant | C/A;G | snv | 1.7E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
9 | 0.790 | 0.240 | 13 | 102862735 | missense variant | G/A;C | snv | 4.3E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
37 | 0.620 | 0.440 | 7 | 152648922 | missense variant | C/G;T | snv | 4.0E-06; 6.4E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
10 | 0.763 | 0.320 | 9 | 21984662 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
8 | 0.790 | 0.160 | 6 | 108682118 | 3 prime UTR variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
5 | 0.827 | 0.160 | 2 | 1496155 | missense variant | A/C;G | snv | 0.43 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.851 | 0.080 | 1 | 9721816 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 |