| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.583 | 0.680 | 4 | 88131171 | missense variant | G/C;T | snv | 4.0E-06; 0.12 |
|
0.800 | 1.000 | 14 | 2008 | 2019 | ||||||||
|
0.882 | 0.160 | 4 | 9993558 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 8 | 2009 | 2019 | |||||||||
|
8 | 75550312 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 3 | 2018 | 2019 | |||||||||||
|
0.925 | 0.120 | 2 | 147958859 | missense variant | T/A;C;G | snv | 0.36; 8.4E-06 |
|
0.700 | 1.000 | 3 | 2013 | 2019 | ||||||||
|
0.851 | 0.240 | 4 | 9933120 | intron variant | G/A;T | snv |
|
0.800 | 1.000 | 3 | 2008 | 2016 | |||||||||
|
12 | 111280427 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 3 | 2018 | 2019 | |||||||||||
|
0.882 | 0.160 | 4 | 88169725 | intron variant | T/C;G | snv |
|
0.800 | 1.000 | 2 | 2009 | 2015 | |||||||||
|
0.925 | 0.120 | 4 | 9996816 | synonymous variant | C/G;T | snv | 1.2E-05; 0.70 |
|
0.700 | 1.000 | 2 | 2009 | 2011 | ||||||||
|
0.925 | 0.120 | 6 | 25821388 | intron variant | T/A;G | snv |
|
0.800 | 1.000 | 2 | 2009 | 2013 | |||||||||
|
0.925 | 0.120 | 6 | 25818538 | intron variant | A/C;G;T | snv |
|
0.800 | 1.000 | 2 | 2009 | 2015 | |||||||||
|
0.925 | 0.120 | 6 | 25870314 | intron variant | T/A;G | snv |
|
0.800 | 1.000 | 2 | 2008 | 2009 | |||||||||
|
11 | 63552521 | downstream gene variant | G/A;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||||
|
0.925 | 0.120 | 5 | 73135655 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2013 | 2019 | |||||||||
|
1 | 145707383 | 5 prime UTR variant | A/G;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||||
|
2 | 169154948 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||||
|
2 | 169348613 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||||||
|
0.732 | 0.240 | 1 | 155192276 | splice acceptor variant | C/A;T | snv | 0.59 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
0.925 | 0.120 | 4 | 9995488 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 2 | 2009 | 2011 | |||||||||
|
7 | 1258812 | intergenic variant | C/G;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||||
|
0.925 | 0.120 | 11 | 64696613 | intron variant | T/A;C | snv |
|
0.800 | 1.000 | 2 | 2012 | 2018 | |||||||||
|
11 | 64657495 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||||
|
20 | 44427509 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||||||
|
3 | 53065450 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||||
|
0.882 | 0.120 | 16 | 69529987 | intergenic variant | C/G;T | snv |
|
0.700 | 1.000 | 2 | 2013 | 2019 | |||||||||
|
0.925 | 0.120 | 17 | 55287427 | intron variant | C/A;G | snv |
|
0.700 | 1.000 | 2 | 2013 | 2019 |