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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 |
|
0.020 | 1.000 | 2 | 2014 | 2017 | ||||||||
|
1.000 | 0.080 | 17 | 4539780 | missense variant | T/A | snv | 3.0E-02 | 2.7E-02 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.080 | 6 | 137211614 | intron variant | G/A | snv | 0.20 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 6 | 137209894 | 5 prime UTR variant | C/T | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.080 | 6 | 32642624 | missense variant | G/A | snv | 0.18 | 8.7E-02 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.080 | 6 | 32637832 | intron variant | G/A | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 6 | 32613805 | intergenic variant | C/G | snv | 0.54 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | 2 | 230212395 | missense variant | C/T | snv | 0.11 | 9.1E-02 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | |||||||
|
0.851 | 0.280 | 2 | 191153045 | upstream gene variant | T/C | snv | 0.54 |
|
0.020 | 1.000 | 2 | 2014 | 2018 | ||||||||
|
0.689 | 0.600 | 6 | 52185695 | upstream gene variant | C/T | snv | 0.72 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||||
|
0.672 | 0.520 | 11 | 126292948 | missense variant | C/T | snv | 0.12 | 0.11 |
|
0.030 | 1.000 | 3 | 2010 | 2014 | |||||||
|
0.716 | 0.560 | 16 | 53782363 | intron variant | C/A | snv | 0.40 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.576 | 0.760 | 12 | 47845054 | intron variant | C/A | snv | 0.51 | 0.55 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.851 | 0.160 | 12 | 121167552 | missense variant | G/A;C | snv | 0.25; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.752 | 0.440 | 9 | 117716658 | 3 prime UTR variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.080 | 4 | 38796574 | missense variant | C/T | snv | 2.0E-05 | 1.4E-05 |
|
0.020 | 1.000 | 2 | 2010 | 2010 | |||||||
|
0.882 | 0.120 | 6 | 137219233 | 5 prime UTR variant | A/G;T | snv | 0.43; 4.4E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.623 | 0.600 | 2 | 136115750 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.120 | 1 | 67219760 | intron variant | G/A | snv | 0.43 | 0.47 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.542 | 0.760 | 12 | 47844974 | synonymous variant | A/G | snv | 0.33 | 0.34 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 2 | 230168800 | non coding transcript exon variant | C/T | snv | 0.57 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.080 | 16 | 50691282 | upstream gene variant | C/T | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.708 | 0.480 | 10 | 52771925 | upstream gene variant | G/A;C;T | snv |
|
0.020 | 0.500 | 2 | 2014 | 2019 | |||||||||
|
0.882 | 0.120 | 10 | 52771701 | upstream gene variant | G/A | snv | 0.30 |
|
0.020 | 1.000 | 2 | 2019 | 2019 |