| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.701 | 0.400 | 22 | 37066896 | missense variant | A/G;T | snv | 0.57; 4.0E-06 |
|
0.800 | 1.000 | 5 | 2010 | 2019 | ||||||||
|
16 | 88787321 | upstream gene variant | C/G;T | snv |
|
0.800 | 1.000 | 4 | 2010 | 2019 | |||||||||||
|
11 | 5209677 | downstream gene variant | T/C | snv | 3.5E-02 |
|
0.800 | 1.000 | 3 | 2013 | 2019 | ||||||||||
|
6 | 135097778 | intron variant | A/G | snv | 0.24 |
|
0.800 | 1.000 | 3 | 2012 | 2018 | ||||||||||
|
16 | 264781 | intron variant | G/A;T | snv | 2.9E-05; 6.5E-03 |
|
0.800 | 1.000 | 3 | 2013 | 2019 | ||||||||||
|
16 | 88774054 | intron variant | G/A | snv | 0.49 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | ||||||||||
|
16 | 260381 | intron variant | G/A;C | snv | 1.1E-02 |
|
0.800 | 1.000 | 2 | 2013 | 2019 | ||||||||||
|
0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 |
|
0.800 | 1.000 | 2 | 2012 | 2018 | |||||||
|
11 | 5281833 | intron variant | G/A;T | snv | 4.2E-02 |
|
0.700 | 1.000 | 2 | 2013 | 2019 | ||||||||||
|
0.724 | 0.240 | 11 | 5227002 | missense variant | T/A;C;G | snv | 3.5E-03 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
1 | 247876149 | missense variant | C/T | snv | 0.31 | 0.26 |
|
0.800 | 1.000 | 2 | 2012 | 2018 | |||||||||
|
0.851 | 0.160 | 22 | 37073551 | missense variant | G/A;C | snv | 0.53; 4.0E-06 |
|
0.800 | 1.000 | 2 | 2010 | 2019 | ||||||||
|
6 | 135070962 | intron variant | C/A | snv | 0.56 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||||
|
16 | 88789676 | upstream gene variant | C/G;T | snv |
|
0.700 | 1.000 | 2 | 2016 | 2017 | |||||||||||
|
0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 |
|
0.700 | 1.000 | 2 | 2010 | 2017 | |||||||
|
8 | 42602307 | intergenic variant | T/C | snv | 0.69 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | ||||||||||
|
1.000 | 0.080 | 16 | 134391 | intron variant | T/G | snv | 2.0E-02 |
|
0.700 | 1.000 | 2 | 2013 | 2019 | ||||||||
|
1 | 158605939 | intron variant | C/T | snv | 0.24 |
|
0.800 | 1.000 | 2 | 2012 | 2017 | ||||||||||
|
11 | 65583893 | non coding transcript exon variant | G/A | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 144426749 | non coding transcript exon variant | A/G | snv | 7.1E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
8 | 97627834 | upstream gene variant | A/G | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 25243590 | missense variant | T/C | snv | 0.20 | 0.19 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
17 | 8259502 | intron variant | T/C | snv | 0.70 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 164692059 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
1 | 203681817 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 |