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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.100 | 0.872 | 39 | 2005 | 2019 | |||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.100 | 0.871 | 31 | 2005 | 2019 | |||||||||
|
0.742 | 0.200 | 10 | 61963818 | intron variant | C/T | snv | 0.69 |
|
0.100 | 1.000 | 11 | 2009 | 2019 | ||||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.100 | 0.600 | 10 | 2003 | 2017 | ||||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
0.100 | 1.000 | 10 | 2007 | 2015 | |||||||
|
0.763 | 0.240 | 7 | 50402906 | 3 prime UTR variant | T/G | snv | 0.25 |
|
0.100 | 1.000 | 10 | 2009 | 2019 | ||||||||
|
0.752 | 0.200 | 10 | 61992400 | intron variant | T/G | snv | 0.32 |
|
0.090 | 1.000 | 9 | 2009 | 2019 | ||||||||
|
0.790 | 0.120 | 10 | 61950345 | intron variant | A/G | snv | 0.49 |
|
0.070 | 0.857 | 7 | 2009 | 2019 | ||||||||
|
0.742 | 0.240 | 14 | 23119848 | upstream gene variant | G/A | snv | 0.38 |
|
0.070 | 0.857 | 7 | 2009 | 2017 | ||||||||
|
0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 |
|
0.060 | 1.000 | 6 | 2007 | 2015 | |||||||
|
0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 |
|
0.060 | 1.000 | 6 | 2002 | 2014 | |||||||
|
0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 |
|
0.050 | 1.000 | 5 | 2002 | 2017 | |||||||
|
0.763 | 0.320 | 9 | 21984662 | intron variant | A/C;T | snv |
|
0.050 | 1.000 | 5 | 2010 | 2018 | |||||||||
|
0.763 | 0.240 | 7 | 50398606 | intron variant | A/G | snv | 0.25 |
|
0.040 | 0.750 | 4 | 2013 | 2019 | ||||||||
|
0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 |
|
0.040 | 1.000 | 4 | 2012 | 2019 | |||||||
|
0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 |
|
0.030 | 0.667 | 3 | 2011 | 2019 | |||||||
|
0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 |
|
0.030 | 0.333 | 3 | 2007 | 2017 | |||||||
|
0.776 | 0.280 | 6 | 18130687 | missense variant | T/C;G | snv | 3.7E-02 |
|
0.030 | 1.000 | 3 | 2008 | 2013 | ||||||||
|
0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 |
|
0.030 | 1.000 | 3 | 2008 | 2018 | |||||||
|
0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 |
|
0.030 | 1.000 | 3 | 2013 | 2017 | |||||||
|
0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 |
|
0.030 | 1.000 | 3 | 2015 | 2017 | |||||||
|
0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 |
|
0.030 | 1.000 | 3 | 2007 | 2012 | ||||||||
|
0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 |
|
0.030 | 0.667 | 3 | 2014 | 2019 | |||||||
|
0.683 | 0.320 | 9 | 21970917 | missense variant | C/A;G;T | snv | 2.1E-02 |
|
0.030 | 1.000 | 3 | 2015 | 2018 | ||||||||
|
0.752 | 0.320 | 10 | 8062245 | intron variant | C/A;T | snv |
|
0.030 | 1.000 | 3 | 2013 | 2017 |