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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.672 | 0.320 | 8 | 142680513 | 5 prime UTR variant | C/T | snv | 0.46 | 0.45 |
|
0.800 | 0.971 | 34 | 2009 | 2019 | |||||||
|
0.732 | 0.240 | 1 | 155192276 | splice acceptor variant | C/A;T | snv | 0.59 |
|
0.800 | 1.000 | 20 | 2010 | 2018 | ||||||||
|
0.882 | 0.120 | 5 | 40791782 | intron variant | C/T | snv | 0.31 |
|
0.780 | 1.000 | 11 | 2011 | 2018 | ||||||||
|
0.851 | 0.120 | 5 | 40790449 | intron variant | G/A | snv | 0.31 |
|
0.720 | 1.000 | 3 | 2014 | 2018 | ||||||||
|
0.827 | 0.120 | 3 | 114643917 | intron variant | C/G;T | snv |
|
0.720 | 0.667 | 3 | 2011 | 2016 | |||||||||
|
0.851 | 0.120 | 16 | 68819393 | missense variant | C/G;T | snv | 4.0E-06 |
|
0.720 | 1.000 | 2 | 2016 | 2018 | ||||||||
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.710 | 1.000 | 4 | 1987 | 2004 | ||||||||
|
0.851 | 0.120 | 10 | 94310618 | intron variant | A/G | snv | 0.25 |
|
0.710 | 1.000 | 2 | 2010 | 2012 | ||||||||
|
0.882 | 0.240 | 12 | 25245370 | missense variant | T/A;C;G | snv | 4.0E-06 |
|
0.700 | 1.000 | 3 | 1987 | 2003 | ||||||||
|
1.000 | 0.080 | 1 | 45331530 | missense variant | G/A | snv |
|
0.700 | 1.000 | 3 | 2004 | 2015 | |||||||||
|
1.000 | 0.080 | 1 | 45331502 | missense variant | T/C | snv |
|
0.700 | 1.000 | 3 | 2004 | 2015 | |||||||||
|
1.000 | 0.080 | 5 | 132489457 | missense variant | T/A | snv |
|
0.700 | 1.000 | 3 | 1998 | 2014 | |||||||||
|
0.851 | 0.160 | 12 | 25227349 | missense variant | C/A;T | snv |
|
0.700 | 1.000 | 3 | 1987 | 2003 | |||||||||
|
0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 3 | 1987 | 2003 | |||||||||
|
1.000 | 0.080 | 2 | 201187798 | missense variant | T/C | snv | 1.2E-04 | 2.8E-05 |
|
0.700 | 1.000 | 2 | 2002 | 2014 | |||||||
|
0.925 | 0.120 | 5 | 132489448 | missense variant | A/G | snv |
|
0.700 | 1.000 | 2 | 1998 | 1999 | |||||||||
|
0.925 | 0.080 | 17 | 39724744 | missense variant | G/A | snv |
|
0.700 | 1.000 | 2 | 2004 | 2007 | |||||||||
|
0.925 | 0.120 | 1 | 155208991 | missense variant | T/A | snv | 0.36 |
|
0.700 | 1.000 | 2 | 2015 | 2020 | ||||||||
|
1.000 | 0.080 | 4 | 124530209 | intron variant | G/A | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
1.000 | 0.080 | 10 | 94309297 | intron variant | T/G | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.701 | 0.280 | 1 | 155216951 | non coding transcript exon variant | G/A;T | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 2 | 234557214 | regulatory region variant | A/G | snv | 8.1E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 1 | 155215184 | non coding transcript exon variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.807 | 0.120 | 7 | 21544470 | intron variant | G/A | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 6 | 41037763 | intron variant | T/C | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |