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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 1 | 205838885 | intron variant | C/A;T | snv |
|
0.730 | 1.000 | 2 | 2009 | 2016 | |||||||||
|
1.000 | 0.040 | 1 | 156060246 | upstream gene variant | C/G;T | snv | 1.5E-02 |
|
0.810 | 1.000 | 2 | 2011 | 2012 | ||||||||
|
1.000 | 0.040 | 1 | 205808652 | intron variant | G/A | snv | 0.66 |
|
0.720 | 1.000 | 2 | 2011 | 2015 | ||||||||
|
1.000 | 0.040 | 1 | 205744250 | intron variant | G/A | snv | 0.88 |
|
0.850 | 1.000 | 2 | 2009 | 2018 | ||||||||
|
1.000 | 0.040 | 1 | 205795512 | non coding transcript exon variant | G/A | snv | 0.77 | 0.70 |
|
0.850 | 1.000 | 2 | 2011 | 2019 | |||||||
|
0.925 | 0.040 | 1 | 205783537 | non coding transcript exon variant | A/G | snv | 0.64 |
|
0.840 | 1.000 | 2 | 2009 | 2017 | ||||||||
|
1.000 | 0.040 | 1 | 156094089 | intron variant | C/A | snv | 0.90 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.040 | 1 | 68405344 | intergenic variant | G/A | snv | 6.7E-02 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 1 | 18813023 | intergenic variant | C/T | snv | 0.28 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 1 | 43475837 | TF binding site variant | G/A | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.040 | 1 | 155135691 | splice region variant | G/A;C | snv | 1.1E-02; 3.4E-05 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 1 | 154882579 | intergenic variant | G/A | snv | 5.0E-02 |
|
0.800 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.040 | 1 | 205669336 | intron variant | C/G;T | snv |
|
0.710 | 1.000 | 1 | 2011 | 2012 | |||||||||
|
1.000 | 0.040 | 1 | 101414449 | intergenic variant | T/A;C | snv |
|
0.810 | 1.000 | 1 | 2014 | 2016 | |||||||||
|
1.000 | 0.040 | 1 | 205755900 | intergenic variant | C/T | snv | 0.83 |
|
0.710 | 1.000 | 1 | 2011 | 2012 | ||||||||
|
1.000 | 0.040 | 2 | 168260515 | intergenic variant | G/T | snv | 0.15 |
|
0.820 | 1.000 | 3 | 2011 | 2015 | ||||||||
|
1.000 | 0.040 | 2 | 134834811 | intron variant | G/A | snv | 0.23 |
|
0.800 | 1.000 | 2 | 2011 | 2012 | ||||||||
|
1.000 | 0.040 | 2 | 168235432 | intron variant | A/C | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 2 | 134782397 | intron variant | C/T | snv | 0.62 |
|
0.830 | 1.000 | 1 | 2012 | 2019 | ||||||||
|
1.000 | 0.040 | 2 | 158866994 | intron variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
1.000 | 0.040 | 2 | 45276121 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
1.000 | 0.040 | 3 | 183103487 | intron variant | G/A | snv | 0.12 |
|
0.810 | 1.000 | 3 | 2011 | 2013 | ||||||||
|
1.000 | 0.040 | 3 | 183042285 | intron variant | T/G | snv | 0.22 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 3 | 183081454 | intron variant | C/T | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.080 | 3 | 161275076 | regulatory region variant | C/T | snv | 0.28 |
|
0.710 | 0.500 | 1 | 2012 | 2015 |