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 | 0.160 | X | 51467205 | downstream gene variant | C/T | snv | 0.29 |
|
0.700 | 1.000 | 2 | 2008 | 2009 | ||||||||
|
0.882 | 0.160 | 10 | 46070851 | regulatory region variant | G/A | snv | 0.55 |
|
0.700 | 1.000 | 2 | 2008 | 2009 | ||||||||
|
0.807 | 0.280 | 7 | 98187015 | intron variant | C/T | snv | 0.41 | 0.37 |
|
0.700 | 1.000 | 2 | 2008 | 2009 | |||||||
|
0.882 | 0.160 | 3 | 128319530 | intron variant | C/A | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.882 | 0.160 | 11 | 69211113 | regulatory region variant | G/A | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.851 | 0.240 | 4 | 94593458 | intron variant | A/C | snv | 0.54 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.776 | 0.240 | 4 | 94641726 | intron variant | C/T | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.882 | 0.160 | 3 | 87124174 | intron variant | G/A | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.851 | 0.160 | 22 | 43104206 | TF binding site variant | G/T | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.882 | 0.160 | X | 51498820 | non coding transcript exon variant | C/T | snv |
|
0.720 | 1.000 | 1 | 2008 | 2009 | |||||||||
|
0.882 | 0.160 | 2 | 63074029 | regulatory region variant | G/A | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.080 | 10 | 46063201 | upstream gene variant | C/G;T | snv |
|
0.710 | 1.000 | 1 | 2008 | 2009 | |||||||||
|
0.851 | 0.200 | 22 | 40056115 | intron variant | T/C | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.882 | 0.160 | X | 51486831 | downstream gene variant | A/G | snv |
|
0.730 | 1.000 | 2 | 2008 | 2010 | |||||||||
|
0.790 | 0.280 | 2 | 172446825 | intron variant | A/G | snv | 4.9E-02 |
|
0.710 | 1.000 | 1 | 2009 | 2010 | ||||||||
|
0.925 | 0.080 | 3 | 87103019 | intron variant | A/G | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.882 | 0.160 | 6 | 160160342 | downstream gene variant | A/G | snv | 0.69 |
|
0.700 | 1.000 | 2 | 2009 | 2011 | ||||||||
|
0.925 | 0.080 | 12 | 52880120 | regulatory region variant | G/A | snv | 0.12 |
|
0.710 | 1.000 | 2 | 2008 | 2011 | ||||||||
|
0.925 | 0.080 | 2 | 85567174 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.925 | 0.080 | 12 | 49282227 | intergenic variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.925 | 0.080 | 3 | 170412314 | intron variant | C/A | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.080 | 10 | 121273005 | intergenic variant | G/A | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 1 | 98200569 | intergenic variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.851 | 0.200 | 6 | 31150734 | missense variant | T/G | snv | 0.23 | 0.21 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.080 | 3 | 116671823 | intron variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 |