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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 |
|
0.010 | < 0.001 | 1 | 2001 | 2001 | ||||||||
|
0.807 | 0.160 | 7 | 80677034 | 3 prime UTR variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.724 | 0.400 | 9 | 22134095 | intergenic variant | T/C | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.776 | 0.400 | 11 | 92975544 | intron variant | C/G | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.080 | 12 | 1719361 | intron variant | C/T | snv | 6.8E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 12 | 1756770 | intron variant | G/A | snv | 0.12 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.776 | 0.360 | 10 | 92703125 | intergenic variant | C/T | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.752 | 0.160 | 8 | 27607002 | intron variant | T/C | snv | 0.56 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.776 | 0.160 | 12 | 120978847 | missense variant | A/C;T | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.776 | 0.240 | 19 | 7122961 | missense variant | C/T | snv |
|
0.010 | < 0.001 | 1 | 2001 | 2001 | |||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.776 | 0.160 | 3 | 12434111 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.605 | 0.520 | 21 | 31667299 | missense variant | G/A;C;T | snv | 1.2E-05; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.080 | 9 | 128122474 | missense variant | C/A;T | snv | 4.0E-06; 0.13 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.882 | 0.080 | 13 | 27924519 | missense variant | G/A | snv | 1.3E-03 | 2.0E-04 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
11 | 49175866 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.080 | 7 | 80672184 | intron variant | G/A | snv | 6.7E-02 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.658 | 0.560 | 7 | 24285260 | missense variant | T/A;C | snv | 4.0E-06; 3.0E-02 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.807 | 0.240 | 4 | 99342808 | missense variant | C/T | snv | 0.34 | 0.31 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.080 | 13 | 40553948 | intron variant | A/G | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.851 | 0.240 | 13 | 40565740 | intron variant | G/A | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.658 | 0.440 | 4 | 119320747 | missense variant | T/A;C;G | snv | 0.73 |
|
0.010 | 1.000 | 1 | 1999 | 1999 | ||||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.010 | 1.000 | 1 | 2006 | 2006 |