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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.120 | 6 | 11615072 | intergenic variant | G/A | snv | 2.6E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 4 | 75909495 | downstream gene variant | T/C | snv | 2.5E-02 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.120 | 3 | 88998609 | intergenic variant | G/T | snv | 7.9E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.120 | 4 | 154623920 | upstream gene variant | A/T | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.120 | 9 | 133274084 | intron variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.807 | 0.200 | 5 | 112828920 | missense variant | G/A | snv | 3.2E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 1998 | 1998 | |||||||
|
0.807 | 0.320 | 2 | 21032408 | missense variant | G/A;C;T | snv | 1.7E-04; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.623 | 0.680 | 21 | 43062358 | missense variant | G/A;T | snv | 8.0E-06; 4.0E-06 |
|
0.020 | 1.000 | 2 | 2006 | 2010 | ||||||||
|
0.882 | 0.120 | 2 | 42372465 | intron variant | T/G | snv | 1.3E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.807 | 0.440 | 13 | 46055809 | missense variant | A/G | snv | 0.74 | 0.77 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.742 | 0.400 | 13 | 46073959 | missense variant | C/T | snv | 0.31 | 0.35 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
1.000 | 0.040 | 4 | 186199057 | missense variant | C/A | snv | 0.57 | 0.61 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1.000 | 0.040 | 19 | 45363999 | synonymous variant | G/A | snv | 7.1E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.827 | 0.200 | 6 | 151944488 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.925 | 0.120 | 13 | 113149020 | missense variant | G/A;T | snv | 4.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.160 | 4 | 186271327 | intron variant | T/C | snv | 0.57 |
|
0.020 | 1.000 | 2 | 2009 | 2016 | ||||||||
|
0.851 | 0.120 | 4 | 186292729 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.040 | 4 | 186286227 | non coding transcript exon variant | C/T | snv | 0.35 |
|
0.030 | 1.000 | 3 | 2009 | 2016 | ||||||||
|
0.724 | 0.280 | 6 | 6318562 | missense variant | C/A;T | snv | 0.20; 2.4E-05 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 |
|
0.090 | 1.000 | 9 | 1999 | 2015 | ||||||||
|
0.547 | 0.720 | 11 | 46739084 | missense variant | G/A;C | snv |
|
0.090 | 1.000 | 9 | 1999 | 2018 | |||||||||
|
0.716 | 0.440 | 11 | 46719773 | missense variant | G/A;T | snv | 4.5E-06; 4.5E-06 |
|
0.030 | 1.000 | 3 | 1999 | 2008 | ||||||||
|
0.695 | 0.400 | 11 | 46739505 | 3 prime UTR variant | G/A | snv | 9.6E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.724 | 0.200 | 11 | 46729529 | missense variant | G/A | snv | 1.6E-05 | 4.2E-05 |
|
0.010 | 1.000 | 1 | 1998 | 1998 |