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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 0.763 | 0.280 | 1 | 97883329 | missense variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.160 | 8 | 127736777 | intron variant | G/T | snv | 7.1E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 8 | 89688709 | intron variant | C/T | snv | 0.67 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
54 | 0.583 | 0.680 | 4 | 88131171 | missense variant | G/C;T | snv | 4.0E-06; 0.12 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.882 | 0.120 | 13 | 95206781 | missense variant | C/A;G;T | snv | 9.7E-02 | 0.10 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
9 | 0.776 | 0.280 | 19 | 7747650 | upstream gene variant | A/G;T | snv | 0.66 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 5 | 87412904 | 5 prime UTR variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
10 | 0.776 | 0.320 | 1 | 97699535 | missense variant | T/C | snv | 8.5E-02 | 8.1E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
6 | 0.827 | 0.160 | 10 | 44376100 | intron variant | G/A;T | snv | 0.21 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
16 | 0.742 | 0.320 | 12 | 21176804 | missense variant | A/G;T | snv | 0.47 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 7 | 30922175 | missense variant | G/A | snv | 3.1E-02 | 2.6E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 17 | 1869979 | intron variant | G/A | snv | 0.24 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
4 | 0.925 | 0.040 | 3 | 119781188 | 5 prime UTR variant | C/T | snv | 0.35 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 0.925 | 0.120 | 17 | 47307567 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
35 | 0.633 | 0.480 | 12 | 21178615 | missense variant | T/C | snv | 0.13 | 0.12 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
15 | 0.763 | 0.360 | 12 | 20858546 | missense variant | T/C;G | snv | 0.81 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 4 | 71028147 | intron variant | C/T | snv | 0.49 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 0.925 | 0.080 | 8 | 55895622 | non coding transcript exon variant | T/C | snv | 0.38 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.827 | 0.400 | 11 | 4074620 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
11 | 0.752 | 0.440 | 17 | 78364457 | intron variant | A/C;G | snv | 0.54 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.080 | 7 | 99760901 | missense variant | A/G | snv | 5.2E-03 | 5.1E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 11 | 36503205 | intron variant | A/G | snv | 0.78 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 11 | 36493896 | intron variant | A/G | snv | 0.12 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 1.000 | 0.040 | 9 | 132988461 | missense variant | G/T | snv | 4.9E-04 | 8.4E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 |