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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.200 | 13 | 73342491 | regulatory region variant | C/G;T | snv |
|
0.700 | 1.000 | 4 | 2010 | 2018 | |||||||||
|
1.000 | 0.120 | 2 | 67412637 | downstream gene variant | G/C;T | snv |
|
0.700 | 1.000 | 2 | 2015 | 2018 | |||||||||
|
0.882 | 0.120 | 18 | 59211042 | intergenic variant | C/T | snv | 0.23 |
|
0.710 | 0.500 | 2 | 2015 | 2018 | ||||||||
|
1.000 | 0.120 | 1 | 200016240 | upstream gene variant | T/A | snv | 0.37 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||
|
0.925 | 0.120 | 10 | 80270029 | downstream gene variant | T/C | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.240 | 1 | 199996040 | intergenic variant | G/A | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.120 | 1 | 199936700 | intergenic variant | C/T | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.851 | 0.120 | 10 | 118519432 | intergenic variant | T/A | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.120 | 2 | 152798206 | intergenic variant | T/G | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | 11 | 7235910 | upstream gene variant | C/T | snv | 2.7E-02 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.120 | 11 | 96970814 | intron variant | T/C | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.120 | 11 | 96947703 | intron variant | T/C | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.120 | 13 | 63564941 | intergenic variant | C/A | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.120 | 8 | 125469233 | intron variant | A/T | snv | 0.69 |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | ||||||||
|
0.807 | 0.160 | 5 | 1313127 | upstream gene variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.120 | 22 | 39248198 | intron variant | C/T | snv | 6.1E-02 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.120 | 4 | 147474942 | intergenic variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.120 | 13 | 63573938 | intergenic variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.827 | 0.360 | 4 | 163086668 | intergenic variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.732 | 0.360 | 5 | 56736057 | regulatory region variant | C/A | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.882 | 0.200 | 6 | 68432116 | intron variant | T/G | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.827 | 0.120 | 6 | 1339954 | intergenic variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.851 | 0.120 | 13 | 73322084 | intergenic variant | A/G | snv | 0.52 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 13 | 73334709 | regulatory region variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.925 | 0.120 | 4 | 88132618 | missense variant | C/T | snv | 6.4E-05 | 5.6E-05 |
|
0.010 | 1.000 | 1 | 2011 | 2011 |