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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 15 | 46347610 | intron variant | G/A | snv | 0.49 |
|
0.710 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.160 | 11 | 2212344 | intergenic variant | A/C;G | snv |
|
0.710 | 1.000 | 1 | 2009 | 2012 | |||||||||
|
0.925 | 0.080 | 17 | 49359387 | intron variant | G/A;C | snv |
|
0.710 | 1.000 | 1 | 2011 | 2015 | |||||||||
|
0.851 | 0.200 | 2 | 62904596 | intron variant | G/A | snv | 0.13 |
|
0.710 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.080 | 10 | 46063201 | upstream gene variant | C/G;T | snv |
|
0.710 | 1.000 | 1 | 2008 | 2009 | |||||||||
|
0.689 | 0.360 | 11 | 69227030 | intergenic variant | T/G | snv | 0.58 |
|
0.710 | 1.000 | 1 | 2008 | 2012 | ||||||||
|
0.776 | 0.240 | 19 | 38244973 | intron variant | C/T | snv | 0.40 |
|
0.710 | 1.000 | 1 | 2009 | 2013 | ||||||||
|
0.925 | 0.080 | 9 | 107394019 | intergenic variant | C/T | snv | 0.81 |
|
0.710 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.160 | 6 | 160412632 | intron variant | C/T | snv | 0.21 |
|
0.710 | 1.000 | 1 | 2008 | 2012 | ||||||||
|
0.925 | 0.080 | 13 | 73154002 | intergenic variant | G/T | snv | 0.46 |
|
0.710 | 1.000 | 1 | 2010 | 2012 | ||||||||
|
0.882 | 0.080 | X | 67717495 | missense variant | G/A | snv | 7.7E-05 | 1.9E-05 |
|
0.710 | 1.000 | 0 | 2003 | 2003 | |||||||
|
0.742 | 0.440 | 13 | 32340212 | stop gained | G/T | snv | 8.0E-06 |
|
0.710 | 1.000 | 0 | 2013 | 2013 | ||||||||
|
0.882 | 0.160 | 8 | 127506309 | regulatory region variant | C/A | snv | 0.88 |
|
0.700 | 1.000 | 6 | 2008 | 2013 | ||||||||
|
1.000 | 0.080 | 22 | 28699866 | missense variant | T/A;C | snv | 1.6E-05 |
|
0.700 | 1.000 | 5 | 2008 | 2015 | ||||||||
|
1.000 | 0.080 | 22 | 28699879 | missense variant | T/C;G | snv | 4.0E-06 |
|
0.700 | 1.000 | 5 | 2008 | 2015 | ||||||||
|
0.882 | 0.120 | 22 | 28725031 | missense variant | G/A | snv | 1.0E-03 | 5.5E-04 |
|
0.700 | 1.000 | 5 | 2008 | 2015 | |||||||
|
0.807 | 0.240 | 8 | 127081052 | non coding transcript exon variant | C/T | snv | 0.20 |
|
0.700 | 1.000 | 4 | 2008 | 2013 | ||||||||
|
0.882 | 0.160 | 8 | 127310936 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 3 | 2009 | 2013 | |||||||||
|
0.882 | 0.160 | 11 | 69228491 | intergenic variant | A/C;G | snv |
|
0.700 | 1.000 | 3 | 2009 | 2013 | |||||||||
|
0.658 | 0.400 | 8 | 127395198 | intron variant | A/G | snv | 0.40 |
|
0.700 | 1.000 | 2 | 2008 | 2013 | ||||||||
|
0.925 | 0.080 | 8 | 127112950 | intron variant | C/T | snv | 0.16 |
|
0.700 | 1.000 | 2 | 2008 | 2012 | ||||||||
|
1.000 | 0.080 | 10 | 46057646 | regulatory region variant | A/G | snv | 0.45 |
|
0.700 | 1.000 | 2 | 2008 | 2008 | ||||||||
|
1.000 | 0.080 | 8 | 127519628 | intergenic variant | G/A | snv | 0.80 |
|
0.700 | 1.000 | 2 | 2008 | 2008 | ||||||||
|
0.882 | 0.160 | X | 51467205 | downstream gene variant | C/T | snv | 0.29 |
|
0.700 | 1.000 | 2 | 2008 | 2009 | ||||||||
|
1.000 | 0.080 | 8 | 127100470 | intron variant | T/G | snv | 0.13 |
|
0.700 | 1.000 | 2 | 2008 | 2012 |