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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
43 | 0.641 | 0.600 | 15 | 78601997 | synonymous variant | G/A | snv | 0.27 | 0.26 | 0.900 | 1.000 | 15 | 2010 | 2018 | |||
|
24 | 0.695 | 0.440 | 15 | 78513681 | intron variant | T/C | snv | 0.27 | 0.880 | 1.000 | 10 | 2009 | 2018 | ||||
|
7 | 0.851 | 0.160 | 15 | 78497146 | synonymous variant | C/T | snv | 0.54 | 0.51 | 0.850 | 1.000 | 7 | 2010 | 2018 | |||
|
7 | 0.925 | 0.040 | 4 | 88962828 | intron variant | C/T | snv | 0.53 | 0.840 | 1.000 | 6 | 2010 | 2015 | ||||
|
7 | 0.925 | 0.040 | 4 | 144565237 | intron variant | A/G | snv | 0.33 | 0.830 | 1.000 | 4 | 2010 | 2017 | ||||
|
6 | 0.851 | 0.080 | 19 | 40796801 | 3 prime UTR variant | C/A;T | snv | 0.49 | 0.830 | 1.000 | 4 | 2012 | 2018 | ||||
|
5 | 1.000 | 0.040 | 4 | 144559628 | intron variant | A/G | snv | 0.43 | 0.820 | 1.000 | 4 | 2009 | 2013 | ||||
|
11 | 0.827 | 0.120 | 4 | 88948181 | intron variant | T/C | snv | 0.49 | 0.820 | 0.750 | 4 | 2010 | 2015 | ||||
|
18 | 0.790 | 0.160 | 15 | 78606381 | intron variant | C/A;T | snv | 0.810 | 1.000 | 7 | 2011 | 2018 | |||||
|
1 | 1.000 | 0.040 | 6 | 33510719 | intergenic variant | A/G | snv | 0.55 | 0.810 | 1.000 | 2 | 2011 | 2017 | ||||
|
8 | 1.000 | 0.040 | 4 | 144585304 | intron variant | T/C | snv | 0.32 | 0.800 | 1.000 | 4 | 2012 | 2017 | ||||
|
3 | 1.000 | 0.040 | 15 | 78490935 | intron variant | G/A;T | snv | 0.800 | 1.000 | 2 | 2012 | 2019 | |||||
|
1 | 1.000 | 0.040 | 2 | 129710793 | intergenic variant | C/T | snv | 0.70 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 1 | 53405413 | intergenic variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | 10 | 94298879 | intron variant | G/A;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 1.000 | 0.040 | 4 | 88954758 | intron variant | C/T | snv | 0.45 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 15 | 78535289 | 3 prime UTR variant | C/T | snv | 2.4E-05 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 4 | 121686023 | intron variant | T/C;G | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | 3 | 111514392 | intron variant | C/A;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | 6 | 4874525 | intron variant | C/G | snv | 5.3E-02 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 2 | 46795404 | intron variant | A/C | snv | 6.8E-02 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 6 | 33497705 | intergenic variant | C/T | snv | 0.50 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
37 | 0.653 | 0.360 | 15 | 78590583 | missense variant | G/A | snv | 0.26 | 0.24 | 0.780 | 0.889 | 9 | 2010 | 2018 | |||
|
82 | 0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 | 0.760 | 1.000 | 8 | 2012 | 2019 | |||
|
14 | 0.752 | 0.360 | 10 | 79946568 | missense variant | A/G | snv | 0.47 | 0.42 | 0.740 | 1.000 | 6 | 2011 | 2019 |