| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 5 | 180633804 | intron variant | G/C;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.807 | 0.120 | 10 | 89247603 | missense variant | T/G | snv | 0.32 | 0.26 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.724 | 0.240 | 17 | 45991484 | missense variant | G/A;T | snv | 1.5E-03; 1.2E-05 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.925 | 0.080 | 13 | 51941218 | missense variant | A/G;T | snv | 0.57 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.827 | 0.160 | 9 | 22055049 | intron variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.080 | Y | 57186044 | intron variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.851 | 0.160 | 5 | 135899917 | intron variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.851 | 0.120 | 1 | 226888097 | missense variant | C/A | snv | 1.9E-04 | 4.2E-05 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.525 | 0.800 | 4 | 153705165 | missense variant | G/A | snv | 1.7E-02 | 1.8E-02 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.645 | 0.640 | 13 | 46897343 | upstream gene variant | C/T | snv | 0.40 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.200 | 21 | 25891853 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.716 | 0.360 | 21 | 25891784 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.080 | 14 | 73192745 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||
|
0.851 | 0.160 | 9 | 22200957 | downstream gene variant | G/A | snv | 7.4E-03 |
|
0.010 | 1.000 | 1 | 2019 | 2019 |