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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.614 | 0.400 | 4 | 54733155 | missense variant | A/T | snv |
|
0.100 | 1.000 | 11 | 1998 | 2019 | |||||||||
|
0.605 | 0.400 | 4 | 54733167 | missense variant | A/G;T | snv |
|
0.100 | 1.000 | 11 | 1998 | 2019 | |||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.080 | 0.875 | 8 | 2003 | 2019 | |||||||
|
0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 |
|
0.060 | 0.833 | 6 | 2006 | 2019 | ||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.050 | 0.800 | 5 | 2006 | 2019 | |||||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.040 | 0.750 | 4 | 2006 | 2013 | ||||||||
|
0.742 | 0.040 | 2 | 208248468 | synonymous variant | G/A | snv | 5.1E-02 | 6.8E-02 |
|
0.040 | 0.750 | 4 | 2010 | 2018 | |||||||
|
0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 |
|
0.040 | 0.750 | 4 | 2011 | 2014 | |||||||
|
0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 |
|
0.030 | 1.000 | 3 | 2001 | 2005 | |||||||
|
0.752 | 0.280 | 1 | 20589208 | missense variant | A/C | snv | 0.28 | 0.25 |
|
0.030 | 1.000 | 3 | 2009 | 2015 | |||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.020 | < 0.001 | 2 | 2012 | 2016 | ||||||||
|
1.000 | 0.040 | 11 | 4138534 | 3 prime UTR variant | A/T | snv | 0.88 |
|
0.020 | 1.000 | 2 | 2013 | 2017 | ||||||||
|
0.742 | 0.200 | 10 | 61963818 | intron variant | C/T | snv | 0.69 |
|
0.020 | 1.000 | 2 | 2014 | 2019 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.020 | < 0.001 | 2 | 2012 | 2016 | |||||||||
|
0.614 | 0.280 | 15 | 90087472 | missense variant | C/T | snv | 2.0E-03 | 1.6E-03 |
|
0.020 | 1.000 | 2 | 2015 | 2018 | |||||||
|
0.882 | 0.080 | 19 | 17837200 | missense variant | G/A | snv |
|
0.020 | 1.000 | 2 | 2011 | 2015 | |||||||||
|
0.827 | 0.080 | 6 | 38761760 | missense variant | A/G | snv | 7.0E-06 |
|
0.020 | 1.000 | 2 | 2016 | 2017 | ||||||||
|
0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 |
|
0.020 | 1.000 | 2 | 2001 | 2005 | |||||||
|
0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 |
|
0.020 | 1.000 | 2 | 2015 | 2018 | ||||||||
|
0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 |
|
0.020 | 1.000 | 2 | 2015 | 2019 | ||||||||
|
0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 |
|
0.020 | 1.000 | 2 | 2015 | 2019 | ||||||||
|
0.649 | 0.280 | 10 | 88989499 | intron variant | G/A;T | snv | 0.15 |
|
0.020 | 1.000 | 2 | 2010 | 2012 | ||||||||
|
0.763 | 0.120 | 17 | 42300657 | intron variant | C/A;T | snv |
|
0.020 | 1.000 | 2 | 2012 | 2016 | |||||||||
|
0.925 | 0.160 | 5 | 1254479 | missense variant | C/T | snv | 1.2E-02 | 1.3E-02 |
|
0.020 | 1.000 | 2 | 2014 | 2017 | |||||||
|
0.525 | 0.800 | 4 | 153705165 | missense variant | G/A | snv | 1.7E-02 | 1.8E-02 |
|
0.020 | 1.000 | 2 | 2015 | 2016 |