| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.667 | 0.480 | 19 | 44905579 | upstream gene variant | T/G | snv | 0.58 |
|
0.700 | 1.000 | 3 | 2012 | 2013 | ||||||||
|
0.807 | 0.240 | 19 | 44744370 | upstream gene variant | A/G | snv | 7.7E-02 |
|
0.700 | 1.000 | 3 | 2008 | 2013 | ||||||||
|
0.807 | 0.160 | 2 | 21063185 | intergenic variant | T/C | snv | 0.73 |
|
0.700 | 1.000 | 3 | 2009 | 2013 | ||||||||
|
0.851 | 0.080 | 1 | 109278889 | downstream gene variant | T/G | snv | 0.63 |
|
0.700 | 1.000 | 3 | 2008 | 2012 | ||||||||
|
1 | 109275216 | 3 prime UTR variant | T/C | snv | 0.75 |
|
0.700 | 1.000 | 3 | 2008 | 2012 | ||||||||||
|
0.641 | 0.640 | 19 | 44908822 | missense variant | C/T | snv | 6.2E-02 | 7.9E-02 |
|
0.700 | 1.000 | 3 | 2012 | 2013 | |||||||
|
1.000 | 0.080 | 19 | 44825957 | downstream gene variant | T/G | snv | 0.28 |
|
0.700 | 1.000 | 2 | 2008 | 2012 | ||||||||
|
0.662 | 0.320 | 6 | 160589086 | intron variant | A/G | snv | 4.3E-02 |
|
0.700 | 1.000 | 2 | 2012 | 2012 | ||||||||
|
0.807 | 0.280 | 12 | 111634620 | intergenic variant | A/G | snv | 0.29 |
|
0.700 | 1.000 | 2 | 2010 | 2013 | ||||||||
|
8 | 143969375 | intron variant | A/G | snv | 0.40 |
|
0.700 | 1.000 | 2 | 2010 | 2013 | ||||||||||
|
11 | 126374057 | intron variant | G/A | snv | 0.12 |
|
0.700 | 1.000 | 2 | 2010 | 2013 | ||||||||||
|
0.925 | 0.080 | 19 | 11084354 | downstream gene variant | A/G | snv | 0.34 |
|
0.700 | 1.000 | 2 | 2008 | 2009 | ||||||||
|
0.776 | 0.160 | 12 | 120978847 | missense variant | A/C;T | snv | 0.35 |
|
0.700 | 1.000 | 2 | 2010 | 2013 | ||||||||
|
1 | 55052487 | intron variant | C/A;G | snv |
|
0.700 | 1.000 | 2 | 2012 | 2012 | |||||||||||
|
1 | 25449242 | intron variant | A/T | snv | 0.50 |
|
0.700 | 1.000 | 2 | 2010 | 2013 | ||||||||||
|
0.925 | 0.120 | 5 | 75352778 | intron variant | A/T | snv | 0.38 |
|
0.700 | 1.000 | 2 | 2008 | 2012 | ||||||||
|
2 | 21018633 | intron variant | A/G | snv | 0.14 |
|
0.700 | 1.000 | 2 | 2012 | 2013 | ||||||||||
|
19 | 44917997 | intron variant | G/A | snv | 0.11 |
|
0.700 | 1.000 | 2 | 2012 | 2012 | ||||||||||
|
1.000 | 0.080 | 19 | 44943964 | intron variant | G/A | snv | 1.3E-02 |
|
0.700 | 1.000 | 2 | 2012 | 2012 | ||||||||
|
6 | 160157828 | intron variant | T/C | snv | 0.14 |
|
0.700 | 1.000 | 2 | 2010 | 2013 | ||||||||||
|
0.882 | 0.120 | 19 | 19547663 | downstream gene variant | G/T | snv | 0.10 |
|
0.700 | 1.000 | 2 | 2008 | 2012 | ||||||||
|
19 | 11091784 | intron variant | T/A | snv | 6.4E-03 |
|
0.700 | 1.000 | 2 | 2012 | 2012 | ||||||||||
|
19 | 11087511 | upstream gene variant | C/T | snv | 0.16 |
|
0.700 | 1.000 | 2 | 2012 | 2012 | ||||||||||
|
0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 |
|
0.700 | 1.000 | 2 | 2010 | 2013 | |||||||
|
0.925 | 0.040 | 7 | 44539581 | synonymous variant | G/A;C | snv | 4.0E-06; 0.25 |
|
0.700 | 1.000 | 2 | 2010 | 2013 |