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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 7 | 100825743 | intron variant | T/A;C;G | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 3 | 101304904 | intron variant | A/G | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.827 | 0.120 | 4 | 101818823 | intron variant | C/T | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 4 | 101944147 | intron variant | G/A | snv | 4.1E-02 |
|
0.800 | 1.000 | 2 | 2012 | 2017 | ||||||||
|
1.000 | 0.040 | 4 | 102005766 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.827 | 0.120 | 2 | 102030838 | downstream gene variant | G/A | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.040 | 2 | 102046427 | intron variant | T/G | snv | 0.62 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.827 | 0.120 | 2 | 102154822 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.040 | 2 | 102322576 | intron variant | C/T | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.827 | 0.120 | 2 | 102358876 | intron variant | T/G | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.280 | 2 | 102437989 | intron variant | G/A | snv | 0.78 |
|
0.810 | 1.000 | 1 | 2010 | 2015 | ||||||||
|
1.000 | 0.040 | 2 | 102446909 | intron variant | G/A | snv | 0.78 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.724 | 0.240 | 2 | 102464132 | intergenic variant | T/C | snv | 0.78 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.776 | 0.280 | 4 | 102513096 | intron variant | T/C | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 5 | 102611094 | intron variant | A/G | snv | 5.1E-02 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.807 | 0.160 | 19 | 10317045 | 3 prime UTR variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.790 | 0.160 | 19 | 10354167 | missense variant | G/A | snv | 4.6E-03 | 4.9E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.752 | 0.360 | 19 | 10359299 | missense variant | A/C;G | snv | 6.1E-02; 4.0E-06 |
|
0.800 | 1.000 | 3 | 2010 | 2016 | ||||||||
|
1.000 | 0.040 | 19 | 10402235 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2015 | 2017 | |||||||||
|
0.724 | 0.240 | 19 | 10476920 | intergenic variant | C/T | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.807 | 0.160 | 19 | 10489742 | synonymous variant | G/A | snv | 1.9E-02 | 1.5E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.827 | 0.120 | 5 | 10521556 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.040 | 6 | 105987150 | regulatory region variant | A/G | snv | 0.23 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.851 | 0.160 | 6 | 105987394 | regulatory region variant | G/A;C | snv |
|
0.810 | 1.000 | 3 | 2008 | 2017 | |||||||||
|
0.827 | 0.120 | 6 | 106026874 | intron variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 |