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 | 100000723 | non coding transcript exon variant | G/A | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.160 | 1 | 100206504 | missense variant | T/A;C | snv | 0.92 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.708 | 0.320 | 2 | 100840527 | intron variant | G/A | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.708 | 0.320 | 2 | 100843581 | intron variant | T/C | snv | 8.3E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.689 | 0.320 | 2 | 100961475 | intron variant | G/A | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.708 | 0.320 | 2 | 100964784 | intron variant | C/T | snv | 0.92 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 7 | 102227624 | missense variant | G/A | snv | 3.2E-05 | 2.8E-05 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.040 | 12 | 102402539 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 1999 | 1999 | ||||||||
|
0.637 | 0.560 | 19 | 10284116 | missense variant | G/A | snv | 0.11 | 9.3E-02 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.597 | 0.560 | 13 | 102875652 | missense variant | G/C | snv | 0.28 | 0.30 |
|
0.020 | 1.000 | 2 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 14 | 103699345 | intron variant | A/C | snv | 7.1E-03 | 2.2E-02 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 |
|
0.080 | 0.875 | 8 | 2012 | 2017 | |||||||
|
1.000 | 0.040 | 10 | 103901557 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.040 | 8 | 105437494 | intron variant | -/TTTTCT | delins | 0.43 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.040 | 12 | 106419124 | intron variant | T/C | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.716 | 0.160 | 7 | 106867593 | missense variant | T/G | snv | 8.4E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 1 | 108150714 | intron variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.040 | 13 | 108207498 | 3 prime UTR variant | C/T | snv | 0.12 |
|
0.020 | 1.000 | 2 | 2015 | 2016 | ||||||||
|
0.790 | 0.120 | 13 | 108211243 | missense variant | G/A | snv | 0.18 | 0.16 |
|
0.020 | 0.500 | 2 | 2013 | 2015 | |||||||
|
1.000 | 0.040 | 13 | 108215053 | intron variant | A/G | snv | 8.8E-02 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.827 | 0.040 | 11 | 108364388 | intron variant | C/A | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.677 | 0.280 | 19 | 1090804 | intron variant | A/G | snv | 0.78 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 1 | 10920487 | regulatory region variant | G/A | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.630 | 0.360 | 4 | 109912954 | 5 prime UTR variant | A/G | snv | 0.51 |
|
0.030 | 1.000 | 3 | 2012 | 2014 | ||||||||
|
0.925 | 0.040 | 4 | 109945192 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 |