| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.776 | 0.080 | 7 | 55181398 | missense variant | T/A | snv |
|
0.100 | 0.938 | 16 | 2015 | 2020 | |||||||||
|
0.925 | 0.080 | 1 | 22912497 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.070 | 1.000 | 7 | 2012 | 2020 | ||||||||
|
0.851 | 0.080 | 2 | 29220747 | missense variant | C/T | snv |
|
0.040 | 1.000 | 4 | 2014 | 2019 | |||||||||
|
0.925 | 0.080 | 6 | 117317184 | missense variant | C/T | snv |
|
0.030 | 1.000 | 3 | 2015 | 2019 | |||||||||
|
0.851 | 0.080 | 15 | 81290798 | intron variant | G/T | snv | 0.30 |
|
0.030 | 1.000 | 3 | 2016 | 2017 | ||||||||
|
0.827 | 0.080 | 19 | 41259690 | missense variant | T/C | snv | 1.6E-05 | 5.6E-05 |
|
0.030 | 1.000 | 3 | 2016 | 2019 | |||||||
|
1.000 | 0.080 | 6 | 33172302 | missense variant | A/C | snv |
|
0.030 | 1.000 | 3 | 2011 | 2018 | |||||||||
|
0.827 | 0.080 | 15 | 66435113 | missense variant | A/C | snv |
|
0.720 | 1.000 | 2 | 1995 | 2016 | |||||||||
|
0.827 | 0.080 | 2 | 29220765 | missense variant | G/T | snv |
|
0.020 | 1.000 | 2 | 2014 | 2017 | |||||||||
|
1.000 | 0.080 | 6 | 117359856 | missense variant | C/T | snv | 1.4E-05 |
|
0.020 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 9 | 113241753 | intron variant | C/A;T | snv |
|
0.020 | 1.000 | 2 | 2012 | 2016 | |||||||||
|
1.000 | 0.080 | 7 | 87539293 | missense variant | A/G | snv | 6.4E-05 | 1.0E-04 |
|
0.020 | 1.000 | 2 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 3 | 105720182 | synonymous variant | G/A | snv | 0.22 | 0.21 |
|
0.020 | 1.000 | 2 | 2016 | 2018 | |||||||
|
1.000 | 0.080 | 7 | 55181302 | missense variant | G/A;C | snv | 4.0E-05; 8.0E-06 |
|
0.020 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
1.000 | 0.080 | 1 | 207495069 | upstream gene variant | G/C | snv | 0.29 |
|
0.020 | 1.000 | 2 | 2014 | 2019 | ||||||||
|
1.000 | 0.080 | 10 | 102397954 | intron variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.23 |
|
0.020 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
0.851 | 0.080 | 19 | 45406676 | 5 prime UTR variant | G/A;C;T | snv | 0.22; 6.7E-06 |
|
0.020 | 1.000 | 2 | 2013 | 2017 | ||||||||
|
1.000 | 0.080 | 19 | 43561236 | intron variant | C/T | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.080 | 4 | 113625548 | intron variant | A/G | snv | 0.18 |
|
0.710 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 19 | 45405792 | intron variant | C/T | snv | 0.21 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.827 | 0.080 | 8 | 127014165 | intron variant | G/A;C | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 7 | 55170434 | missense variant | T/A | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.080 | 3 | 105658671 | 3 prime UTR variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.851 | 0.080 | 10 | 133391446 | stop gained | C/A;G;T | snv | 1.2E-05; 0.88 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 1 | 20618562 | synonymous variant | C/T | snv | 0.31 | 0.34 |
|
0.010 | 1.000 | 1 | 2011 | 2011 |