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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.763 | 0.440 | 7 | 87536472 | missense variant | C/T | snv |
|
0.010 | < 0.001 | 1 | 2006 | 2006 | |||||||||
|
0.763 | 0.280 | 3 | 129436608 | missense variant | C/T | snv | 5.8E-02 | 3.1E-02 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
9 | 117712651 | missense variant | A/G | snv | 6.5E-04 | 4.3E-04 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
0.614 | 0.320 | 17 | 7675151 | missense variant | C/A;T | snv | 8.0E-06 |
|
0.080 | 1.000 | 8 | 2007 | 2016 | ||||||||
|
0.658 | 0.480 | 9 | 21994285 | missense variant | C/A;T | snv |
|
0.020 | 1.000 | 2 | 2007 | 2016 | |||||||||
|
0.827 | 0.160 | 3 | 189886413 | missense variant | T/A;C | snv | 4.0E-06; 4.0E-06 | 7.0E-06 |
|
0.020 | 1.000 | 2 | 2007 | 2010 | |||||||
|
0.827 | 0.120 | 7 | 55019338 | missense variant | G/A;T | snv | 1.1E-04 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.080 | 11 | 35206195 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.716 | 0.280 | 17 | 7675094 | missense variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
1.000 | 0.080 | 19 | 41337556 | intron variant | T/C | snv | 0.12 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.120 | 17 | 7674965 | missense variant | G/A | snv | 2.4E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.827 | 0.080 | 7 | 55191776 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.790 | 0.160 | 2 | 99439044 | missense variant | A/G | snv | 0.58 | 0.61 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.882 | 0.120 | 2 | 99438696 | missense variant | T/C | snv | 0.13 | 0.17 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.763 | 0.200 | 16 | 13919522 | upstream gene variant | C/T | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.732 | 0.240 | 17 | 39727965 | missense variant | G/A;C;T | snv | 3.2E-05; 2.4E-05; 1.2E-05 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 |
|
0.080 | 1.000 | 8 | 2009 | 2016 | ||||||||
|
0.653 | 0.360 | 15 | 78590583 | missense variant | G/A | snv | 0.26 | 0.24 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.658 | 0.520 | 7 | 55161562 | missense variant | G/A;C;T | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
6 | 14141866 | downstream gene variant | T/C | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
6 | 14138061 | downstream gene variant | C/T | snv | 0.44 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
0.763 | 0.320 | 5 | 1315545 | downstream gene variant | G/A | snv | 0.51 |
|
0.020 | 1.000 | 2 | 2010 | 2013 | ||||||||
|
0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
2 | 10122697 | synonymous variant | C/A | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 |