| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.320 | 1 | 24331573 | missense variant | C/G | snv | 0.16 | 0.17 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | |||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.010 | < 0.001 | 1 | 2012 | 2012 | |||||||||
|
0.882 | 0.200 | 1 | 24364274 | missense variant | T/A | snv | 0.29 | 0.26 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | |||||||
|
0.851 | 0.200 | 1 | 94087882 | intron variant | C/T | snv | 0.53 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | ||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.020 | 0.500 | 2 | 2012 | 2013 | |||||||
|
0.851 | 0.200 | 20 | 40640434 | regulatory region variant | T/C | snv | 0.36 |
|
0.710 | 0.500 | 2 | 2010 | 2015 | ||||||||
|
0.752 | 0.360 | 1 | 209790735 | missense variant | C/T | snv | 8.7E-02 | 3.9E-02 |
|
0.730 | 0.750 | 4 | 2009 | 2019 | |||||||
|
0.882 | 0.200 | 1 | 24342967 | missense variant | C/T | snv | 2.3E-02 | 2.3E-02 |
|
0.730 | 0.750 | 4 | 2016 | 2018 | |||||||
|
0.882 | 0.120 | 17 | 56695877 | intergenic variant | T/A;G | snv |
|
0.700 | 1.000 | 3 | 2017 | 2018 | |||||||||
|
0.776 | 0.280 | 9 | 97854108 | missense variant | C/T | snv |
|
0.020 | 1.000 | 2 | 1998 | 2002 | |||||||||
|
0.882 | 0.120 | 8 | 87856112 | intergenic variant | C/A | snv | 0.68 |
|
0.700 | 1.000 | 2 | 2017 | 2017 | ||||||||
|
0.807 | 0.200 | 16 | 84838445 | 5 prime UTR variant | G/A;C | snv | 8.6E-06; 0.67 |
|
0.020 | 1.000 | 2 | 2011 | 2011 | ||||||||
|
0.827 | 0.200 | 16 | 84907723 | 3 prime UTR variant | C/T | snv | 0.37 |
|
0.020 | 1.000 | 2 | 2011 | 2017 | ||||||||
|
0.732 | 0.440 | 1 | 209815925 | intergenic variant | A/G | snv | 0.84 |
|
0.020 | 1.000 | 2 | 2010 | 2014 | ||||||||
|
0.851 | 0.120 | 10 | 117068049 | intron variant | G/A | snv | 0.19 |
|
0.700 | 1.000 | 2 | 2015 | 2018 | ||||||||
|
0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 |
|
0.020 | 1.000 | 2 | 2002 | 2013 | ||||||||
|
0.851 | 0.200 | 14 | 53952392 | intron variant | G/C | snv | 0.45 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | 14 | 37068147 | intron variant | T/C | snv | 2.8E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.120 | 7 | 156369656 | intergenic variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.120 | 3 | 99784884 | intron variant | A/G | snv | 0.82 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.120 | 5 | 44068744 | upstream gene variant | C/A | snv | 8.3E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.790 | 0.360 | 3 | 30691477 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.925 | 0.120 | 9 | 95497421 | intron variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.677 | 0.680 | 5 | 31401340 | 3 prime UTR variant | A/G;T | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | 8 | 76593073 | intron variant | T/C | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2017 | 2017 |