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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.732 | 0.240 | 1 | 155192276 | splice acceptor variant | C/A;T | snv | 0.59 |
|
0.800 | 1.000 | 20 | 2010 | 2018 | ||||||||
|
0.620 | 0.400 | 10 | 94306584 | missense variant | A/G | snv | 0.28 | 0.31 |
|
0.100 | 1.000 | 16 | 2010 | 2019 | |||||||
|
0.882 | 0.120 | 5 | 40791782 | intron variant | C/T | snv | 0.31 |
|
0.780 | 1.000 | 11 | 2011 | 2018 | ||||||||
|
0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 |
|
0.100 | 1.000 | 11 | 2007 | 2019 | ||||||||
|
0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 |
|
0.100 | 1.000 | 10 | 2005 | 2016 | |||||||
|
0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 |
|
0.080 | 1.000 | 8 | 2008 | 2019 | |||||||
|
0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 |
|
0.080 | 1.000 | 8 | 2007 | 2014 | |||||||
|
0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv |
|
0.070 | 1.000 | 7 | 2008 | 2015 | |||||||||
|
0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 |
|
0.070 | 1.000 | 7 | 2013 | 2018 | |||||||
|
0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 |
|
0.060 | 1.000 | 6 | 2014 | 2016 | |||||||
|
0.658 | 0.400 | 8 | 127395198 | intron variant | A/G | snv | 0.40 |
|
0.040 | 1.000 | 4 | 2014 | 2016 | ||||||||
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.710 | 1.000 | 4 | 1987 | 2004 | ||||||||
|
0.716 | 0.360 | 6 | 52187772 | missense variant | A/G | snv | 8.0E-06 | 7.0E-06 |
|
0.040 | 1.000 | 4 | 2010 | 2018 | |||||||
|
0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 |
|
0.040 | 1.000 | 4 | 2013 | 2017 | |||||||
|
0.555 | 0.760 | 7 | 22726627 | non coding transcript exon variant | G/C | snv | 9.9E-02 |
|
0.040 | 1.000 | 4 | 2012 | 2019 | ||||||||
|
0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 |
|
0.040 | 1.000 | 4 | 2011 | 2019 | ||||||||
|
0.566 | 0.800 | 4 | 73740307 | upstream gene variant | A/T | snv | 0.46 |
|
0.040 | 1.000 | 4 | 2012 | 2018 | ||||||||
|
0.633 | 0.480 | 12 | 53966448 | intron variant | G/A | snv | 0.57 |
|
0.040 | 1.000 | 4 | 2015 | 2020 | ||||||||
|
0.851 | 0.120 | 5 | 40790449 | intron variant | G/A | snv | 0.31 |
|
0.720 | 1.000 | 3 | 2014 | 2018 | ||||||||
|
0.716 | 0.240 | 20 | 56386407 | missense variant | T/C | snv | 0.85 | 0.84 |
|
0.030 | 1.000 | 3 | 2006 | 2019 | |||||||
|
0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 |
|
0.030 | 1.000 | 3 | 2012 | 2016 | |||||||
|
0.882 | 0.240 | 12 | 25245370 | missense variant | T/A;C;G | snv | 4.0E-06 |
|
0.700 | 1.000 | 3 | 1987 | 2003 | ||||||||
|
0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 |
|
0.030 | 1.000 | 3 | 2011 | 2019 | ||||||||
|
0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 |
|
0.030 | 1.000 | 3 | 2009 | 2013 | ||||||||
|
0.658 | 0.560 | 9 | 117715853 | 3 prime UTR variant | G/C | snv | 0.11 |
|
0.030 | 1.000 | 3 | 2011 | 2014 |