| 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 | 7 | 129028456 | intron variant | T/A;G | snv |
|
0.700 | 1.000 | 3 | 2008 | 2014 | |||||||||
|
0.827 | 0.200 | 7 | 128977412 | intron variant | A/C;G | snv |
|
0.800 | 1.000 | 2 | 2011 | 2017 | |||||||||
|
0.763 | 0.400 | 1 | 173222336 | intergenic variant | G/A;T | snv |
|
0.880 | 1.000 | 2 | 2009 | 2019 | |||||||||
|
0.662 | 0.440 | 6 | 137874929 | missense variant | T/C;G | snv | 4.0E-06; 5.4E-02 |
|
0.900 | 0.867 | 2 | 2008 | 2019 | ||||||||
|
0.851 | 0.280 | 11 | 128441164 | intergenic variant | G/A;T | snv |
|
0.820 | 1.000 | 2 | 2009 | 2015 | |||||||||
|
0.807 | 0.320 | 8 | 11482672 | upstream gene variant | T/A;C | snv |
|
0.800 | 1.000 | 2 | 2009 | 2013 | |||||||||
|
0.925 | 0.120 | 6 | 32608701 | regulatory region variant | T/A;C | snv |
|
0.800 | 1.000 | 2 | 2009 | 2013 | |||||||||
|
0.724 | 0.360 | 6 | 32711222 | upstream gene variant | A/G;T | snv |
|
0.810 | 1.000 | 2 | 2008 | 2016 | |||||||||
|
0.752 | 0.360 | 5 | 151078585 | intron variant | C/A;T | snv |
|
0.830 | 1.000 | 1 | 2009 | 2017 | |||||||||
|
1.000 | 0.080 | 7 | 129043493 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.752 | 0.360 | 4 | 101829919 | missense variant | G/A;T | snv | 0.26; 8.0E-06 |
|
0.880 | 1.000 | 1 | 2008 | 2019 | ||||||||
|
1.000 | 0.080 | 1 | 173340574 | intergenic variant | A/G;T | snv |
|
0.810 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
1.000 | 0.080 | 8 | 11593078 | regulatory region variant | T/A;C;G | snv |
|
0.700 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
1.000 | 0.080 | 6 | 27592808 | upstream gene variant | A/C;G | snv |
|
0.800 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.851 | 0.200 | 6 | 32082981 | intron variant | C/A;T | snv |
|
0.810 | 1.000 | 1 | 2011 | 2017 | |||||||||
|
1.000 | 0.080 | 7 | 75546611 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.080 | 22 | 21562901 | intron variant | G/A;T | snv |
|
0.800 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.925 | 0.160 | 8 | 11480378 | non coding transcript exon variant | T/A;C;G | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 |
|
0.810 | 1.000 | 1 | 2008 | 2017 | ||||||||
|
0.851 | 0.200 | 6 | 32082290 | missense variant | T/A;C;G | snv | 8.2E-06; 0.58; 4.1E-06 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.280 | 6 | 32193653 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.080 | 6 | 34584135 | downstream gene variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.925 | 0.160 | 6 | 31548022 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.851 | 0.240 | 6 | 32443746 | intron variant | T/A;C | snv | 0.51 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 19 | 17309480 | intron variant | G/C;T | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 |