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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.724 | 0.640 | 6 | 32396039 | missense variant | T/C | snv | 0.42 | 0.40 |
|
0.900 | 0.933 | 1 | 2005 | 2019 | |||||||
|
0.776 | 0.400 | 6 | 32395438 | intron variant | T/C | snv | 0.13 |
|
0.700 | 1.000 | 3 | 2007 | 2011 | ||||||||
|
0.724 | 0.640 | 6 | 32396039 | missense variant | T/C | snv | 0.42 | 0.40 |
|
0.710 | 1.000 | 3 | 2005 | 2011 | |||||||
|
0.827 | 0.280 | 6 | 32405921 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 3 | 2007 | 2011 | |||||||||
|
0.776 | 0.360 | 6 | 32400310 | intron variant | T/C | snv | 0.25 |
|
0.700 | 1.000 | 3 | 2007 | 2011 | ||||||||
|
1.000 | 0.120 | 6 | 32401711 | intron variant | G/A | snv | 4.6E-02 |
|
0.700 | 1.000 | 2 | 2007 | 2009 | ||||||||
|
0.882 | 0.160 | 6 | 32408196 | upstream gene variant | C/A;T | snv |
|
0.800 | 1.000 | 2 | 2007 | 2014 | |||||||||
|
0.827 | 0.280 | 6 | 32405921 | intron variant | G/A;T | snv |
|
0.800 | 1.000 | 2 | 2010 | 2012 | |||||||||
|
0.925 | 0.200 | 6 | 32393334 | intron variant | C/T | snv | 0.39 |
|
0.700 | 1.000 | 2 | 2007 | 2011 | ||||||||
|
0.882 | 0.200 | 6 | 32407503 | non coding transcript exon variant | C/G | snv | 0.31 |
|
0.700 | 1.000 | 2 | 2007 | 2011 | ||||||||
|
0.882 | 0.200 | 6 | 32407575 | non coding transcript exon variant | A/C;T | snv | 0.32 |
|
0.700 | 1.000 | 2 | 2007 | 2011 | ||||||||
|
1.000 | 0.120 | 6 | 32405408 | intron variant | T/C | snv | 0.11 | 0.11 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.882 | 0.240 | 6 | 32405455 | splice region variant | G/T | snv | 0.11 |
|
0.800 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.240 | 6 | 32405455 | splice region variant | G/T | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.240 | 6 | 32405455 | splice region variant | G/T | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.882 | 0.240 | 6 | 32405455 | splice region variant | G/T | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.040 | 6 | 32405535 | non coding transcript exon variant | C/T | snv | 0.12 |
|
0.810 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.040 | 6 | 32405535 | non coding transcript exon variant | C/T | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.776 | 0.400 | 6 | 32395438 | intron variant | T/C | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.776 | 0.400 | 6 | 32395438 | intron variant | T/C | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.776 | 0.400 | 6 | 32395438 | intron variant | T/C | snv | 0.13 |
|
0.800 | 1.000 | 1 | 2007 | 2015 | ||||||||
|
0.776 | 0.400 | 6 | 32395438 | intron variant | T/C | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.776 | 0.400 | 6 | 32395438 | intron variant | T/C | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 6 | 32403492 | intron variant | C/T | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.160 | 6 | 32403402 | intron variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 |