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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.020 | 1.000 | 2 | 2015 | 2015 | |||||
|
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 | 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 | ||||
|
5 | 0.827 | 0.160 | 2 | 1496155 | missense variant | A/C;G | snv | 0.43 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.100 | 1.000 | 10 | 2008 | 2019 | ||||
|
29 | 0.658 | 0.400 | 8 | 127472793 | intron variant | A/C;T | snv | 0.020 | 0.500 | 2 | 2011 | 2013 | |||||
|
10 | 0.763 | 0.320 | 9 | 21984662 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2011 | 2012 | |||
|
10 | 0.776 | 0.160 | 9 | 97853632 | 5 prime UTR variant | A/G | snv | 0.63 | 0.020 | 1.000 | 2 | 2015 | 2018 | ||||
|
34 | 0.637 | 0.520 | 11 | 14893332 | upstream gene variant | A/G | snv | 0.65 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
12 | 0.752 | 0.120 | 11 | 112087953 | missense variant | A/G | snv | 6.6E-03 | 6.7E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 0.882 | 0.080 | 10 | 43111239 | missense variant | A/G | snv | 0.70 | 0.74 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 0.925 | 2 | 1492028 | intron variant | A/G | snv | 0.51 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
5 | 0.882 | 0.040 | 5 | 151022235 | intron variant | A/G | snv | 0.67 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
14 | 0.724 | 0.440 | 12 | 57764205 | intron variant | A/G | snv | 0.38 | 0.32 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
15 | 0.724 | 0.360 | 11 | 65498698 | non coding transcript exon variant | A/G | snv | 5.9E-02 | 3.3E-02 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
2 | 0.925 | 0.080 | 8 | 32543285 | intron variant | A/G | snv | 0.37 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
15 | 0.742 | 0.200 | 9 | 97793827 | intron variant | A/G;T | snv | 0.070 | 0.714 | 7 | 2014 | 2018 | |||||
|
8 | 0.807 | 0.240 | 5 | 87399457 | missense variant | A/G;T | snv | 0.18 | 0.17 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
11 | 0.776 | 0.200 | 11 | 108272729 | missense variant | C/A;G | snv | 1.7E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
7 | 0.790 | 0.200 | 14 | 80211923 | 5 prime UTR variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 4 | 177335759 | missense variant | C/A;G;T | snv | 4.2E-06; 0.11; 1.7E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.080 | 2 | 217429494 | intron variant | C/G | snv | 0.64 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.827 | 0.160 | 20 | 54173204 | intron variant | C/G | snv | 0.49 | 0.010 | 1.000 | 1 | 2012 | 2012 |