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 | 0.160 | 19 | 43570445 | intron variant | T/G | snv | 0.80 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.080 | 9 | 136501956 | intron variant | A/G | snv | 0.59 | 0.62 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | |||||||
|
0.851 | 0.080 | 9 | 136509318 | intron variant | G/A | snv | 0.13 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.080 | 9 | 136520387 | intron variant | G/A;C | snv |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | |||||||||
|
0.790 | 0.120 | 7 | 116700208 | missense variant | A/G | snv | 2.7E-02 | 1.8E-02 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | |||||||
|
0.716 | 0.360 | 11 | 102713445 | missense variant | A/G | snv | 2.5E-03 | 6.2E-04 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | |||||||
|
0.716 | 0.360 | 11 | 102713373 | missense variant | T/G | snv | 6.0E-02 | 9.8E-02 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | |||||||
|
0.689 | 0.280 | 5 | 83204915 | missense variant | G/T | snv | 2.3E-02 | 1.4E-02 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | |||||||
|
0.790 | 0.160 | 5 | 308981 | non coding transcript exon variant | A/C;T | snv |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | |||||||||
|
0.677 | 0.280 | 19 | 1090804 | intron variant | A/G | snv | 0.78 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
0.827 | 0.120 | 11 | 13369925 | intron variant | C/A;T | snv |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | |||||||||
|
0.732 | 0.240 | 1 | 155192276 | splice acceptor variant | C/A;T | snv | 0.59 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
0.677 | 0.320 | 11 | 61796827 | 3 prime UTR variant | G/C;T | snv |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | |||||||||
|
0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||||
|
0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | |||||||
|
0.790 | 0.120 | 11 | 65423737 | non coding transcript exon variant | C/G | snv | 0.65 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.160 | 7 | 30459190 | 5 prime UTR variant | A/G | snv | 6.3E-02 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.080 | 13 | 28496864 | non coding transcript exon variant | T/A;C | snv |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | |||||||||
|
0.790 | 0.120 | 15 | 78571130 | intron variant | T/C | snv | 0.28 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.080 | 19 | 43455962 | downstream gene variant | A/C | snv | 0.22 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
0.827 | 0.240 | 22 | 23779191 | missense variant | C/T | snv | 0.84 | 0.80 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | |||||||
|
0.689 | 0.400 | 7 | 22728790 | missense variant | A/G;T | snv | 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.080 | 16 | 81280891 | missense variant | C/T | snv | 0.21 | 0.18 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | |||||||
|
0.637 | 0.320 | 3 | 138655502 | missense variant | C/T | snv | 1.2E-05 |
|
0.010 | < 0.001 | 1 | 2012 | 2012 | ||||||||
|
0.763 | 0.200 | 5 | 83075876 | intron variant | C/T | snv | 0.32 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 |