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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.641 | 0.520 | 7 | 140781602 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.763 | 0.160 | 7 | 55181312 | missense variant | G/T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.708 | 0.440 | 12 | 112450406 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.827 | 0.120 | 6 | 52240759 | intron variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
2 | 10122697 | synonymous variant | C/A | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
0.882 | 0.080 | 18 | 50273809 | missense variant | G/A;C | snv | 3.6E-05; 0.19 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.763 | 0.440 | 7 | 87536472 | missense variant | C/T | snv |
|
0.010 | < 0.001 | 1 | 2006 | 2006 | |||||||||
|
0.925 | 0.080 | 12 | 52520259 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.080 | 4 | 143471009 | 3 prime UTR variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.080 | 5 | 1462734 | 3 prime UTR variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.658 | 0.400 | 8 | 127472793 | intron variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.827 | 0.200 | 1 | 155192002 | missense variant | G/A;T | snv | 4.6E-06; 9.1E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.080 | 10 | 91833770 | intron variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.827 | 0.240 | 18 | 63212453 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.672 | 0.400 | 12 | 25227341 | missense variant | T/A;G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.752 | 0.240 | 17 | 7674892 | synonymous variant | T/A;C | snv | 1.3E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1 | 156842109 | missense variant | T/C;G | snv | 8.8E-05; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.790 | 0.280 | 7 | 142751920 | missense variant | G/A;C;T | snv | 8.0E-05; 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2000 | 2000 | ||||||||
|
0.882 | 0.080 | 5 | 55964205 | missense variant | G/C | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.732 | 0.280 | 11 | 1999845 | intron variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.641 | 0.480 | 11 | 1995678 | non coding transcript exon variant | G/A | snv | 0.20 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.658 | 0.520 | 7 | 55161562 | missense variant | G/A;C;T | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.827 | 0.120 | 12 | 89351700 | missense variant | C/A;T | snv | 0.52 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.667 | 0.560 | 5 | 1288432 | intron variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.807 | 0.120 | 7 | 55174014 | missense variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 |