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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.708 | 0.320 | 2 | 100840527 | intron variant | G/A | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.708 | 0.320 | 2 | 100843581 | intron variant | T/C | snv | 8.3E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.689 | 0.320 | 2 | 100961475 | intron variant | G/A | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.708 | 0.320 | 2 | 100964784 | intron variant | C/T | snv | 0.92 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.672 | 0.400 | 12 | 102399791 | 3 prime UTR variant | C/T | snv | 0.45 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.851 | 0.240 | 12 | 102462924 | non coding transcript exon variant | C/G | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.240 | 12 | 102477481 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.120 | 10 | 102615501 | intron variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.701 | 0.280 | 13 | 102844409 | intron variant | C/T | snv | 0.18 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||||
|
0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.716 | 0.160 | 7 | 106867593 | missense variant | T/G | snv | 8.4E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.120 | 7 | 106868317 | missense variant | G/T | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.752 | 0.240 | 16 | 1079010 | missense variant | C/A | snv | 3.7E-02 | 3.7E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.120 | 16 | 1079193 | missense variant | C/A;T | snv | 4.0E-06; 5.3E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.742 | 0.280 | 16 | 1079872 | missense variant | C/T | snv | 0.54 | 0.50 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.882 | 0.120 | 11 | 108227678 | synonymous variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.627 | 0.400 | 11 | 108304735 | missense variant | G/A | snv | 0.11 | 0.11 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.925 | 0.120 | 19 | 11017920 | intron variant | A/G | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.827 | 0.200 | 12 | 111783222 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.050 | 0.600 | 5 | 2005 | 2020 | |||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.050 | 1.000 | 5 | 2005 | 2020 | |||||||
|
0.925 | 0.120 | 17 | 12056502 | intron variant | C/T | snv | 0.45 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.724 | 0.400 | 3 | 122119472 | missense variant | G/A | snv | 0.30 | 0.25 |
|
0.010 | 1.000 | 1 | 2012 | 2012 |