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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.200 | 2 | 112782395 | intron variant | G/A | snv | 0.37 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 2 | 112785696 | upstream gene variant | G/A | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.620 | 0.720 | 2 | 112785383 | upstream gene variant | G/A;C | snv | 0.32 |
|
0.030 | 0.667 | 3 | 2009 | 2013 | ||||||||
|
0.620 | 0.720 | 2 | 112785383 | upstream gene variant | G/A;C | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.620 | 0.720 | 2 | 112785383 | upstream gene variant | G/A;C | snv | 0.32 |
|
0.030 | 1.000 | 3 | 2011 | 2019 | ||||||||
|
0.925 | 0.040 | 2 | 112782600 | intron variant | C/T | snv | 0.32 |
|
0.020 | 1.000 | 2 | 2012 | 2012 | ||||||||
|
0.882 | 0.160 | 2 | 112777253 | intron variant | G/C | snv | 0.70 |
|
0.020 | 0.500 | 2 | 2017 | 2020 | ||||||||
|
0.827 | 0.200 | 2 | 112775308 | intron variant | G/T | snv | 0.64 | 0.70 |
|
0.020 | 0.500 | 2 | 2017 | 2020 | |||||||
|
0.672 | 0.560 | 2 | 112779646 | missense variant | C/A | snv | 0.27 | 0.26 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.763 | 0.280 | 2 | 112774506 | 3 prime UTR variant | A/G | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.672 | 0.560 | 2 | 112779646 | missense variant | C/A | snv | 0.27 | 0.26 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | |||||||
|
0.620 | 0.720 | 2 | 112785383 | upstream gene variant | G/A;C | snv | 0.32 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
0.672 | 0.560 | 2 | 112779646 | missense variant | C/A | snv | 0.27 | 0.26 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.763 | 0.280 | 2 | 112774506 | 3 prime UTR variant | A/G | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.672 | 0.560 | 2 | 112779646 | missense variant | C/A | snv | 0.27 | 0.26 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.672 | 0.560 | 2 | 112779646 | missense variant | C/A | snv | 0.27 | 0.26 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 2 | 112782507 | intron variant | G/A | snv | 0.74 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.620 | 0.720 | 2 | 112785383 | upstream gene variant | G/A;C | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.672 | 0.560 | 2 | 112779646 | missense variant | C/A | snv | 0.27 | 0.26 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.620 | 0.720 | 2 | 112785383 | upstream gene variant | G/A;C | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins |
|
0.010 | 1.000 | 1 | 2014 | 2014 |