| 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 | 0.080 | 16 | 20799983 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | 4 | 102620848 | downstream gene variant | G/T | snv | 4.3E-02 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.120 | 12 | 59685594 | intron variant | G/A | snv | 0.57 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.120 | 18 | 53125996 | intron variant | G/A | snv | 5.3E-02 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.776 | 0.080 | 20 | 6622975 | intergenic variant | C/T | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.790 | 0.080 | 16 | 68778398 | intron variant | A/T | snv | 0.29 |
|
0.710 | 1.000 | 2 | 2019 | 2020 | ||||||||
|
0.776 | 0.080 | 16 | 80009361 | intergenic variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.732 | 0.160 | 16 | 68787043 | intron variant | G/A | snv | 0.28 |
|
0.850 | 1.000 | 6 | 2008 | 2016 | ||||||||
|
0.776 | 0.080 | 16 | 68710036 | intron variant | A/C | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.080 | 2 | 218290058 | 5 prime UTR variant | G/A | snv | 0.46 |
|
0.730 | 1.000 | 4 | 2016 | 2019 | ||||||||
|
0.925 | 0.120 | 16 | 325782 | intron variant | C/T | snv | 0.51 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.120 | 17 | 41869011 | intron variant | G/A;C;T | snv | 4.2E-06; 0.78 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.695 | 0.280 | 17 | 78214286 | 5 prime UTR variant | G/A;C;T | snv | 0.38; 4.8E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.790 | 0.080 | 17 | 42603793 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.080 | 10 | 102109138 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.240 | 4 | 86785353 | missense variant | T/G | snv | 0.42 | 0.53 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.080 | 3 | 12369739 | intron variant | A/C | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 2 | 47799048 | synonymous variant | T/C | snv | 4.0E-06 | 2.8E-05 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.776 | 0.120 | 3 | 151704793 | intergenic variant | G/A | snv | 6.1E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.776 | 0.080 | 2 | 198916862 | intron variant | T/C | snv | 0.62 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.776 | 0.080 | 17 | 72417112 | intron variant | G/A | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.080 | 3 | 53054269 | intron variant | T/G | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.160 | 13 | 90145678 | intergenic variant | T/C | snv | 0.65 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 12 | 132673217 | missense variant | C/T | snv | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2017 | 2017 |