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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 |
|
0.020 | 1.000 | 2 | 2002 | 2011 | ||||||||
|
6 | 155812754 | intergenic variant | A/G | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.701 | 0.360 | 19 | 39241143 | upstream gene variant | A/G | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
6 | 101327270 | intron variant | A/G | snv | 0.62 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.658 | 0.480 | 6 | 32184610 | upstream gene variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 |
|
0.020 | 1.000 | 2 | 2009 | 2015 | ||||||||
|
0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 |
|
0.010 | < 0.001 | 1 | 2006 | 2006 | |||||||
|
0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv |
|
0.010 | < 0.001 | 1 | 2006 | 2006 | |||||||||
|
0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
6 | 155812936 | intergenic variant | C/T | snv | 0.12 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.882 | 0.280 | 20 | 50581336 | missense variant | C/T | snv | 4.8E-03 | 5.0E-03 |
|
0.010 | < 0.001 | 1 | 2004 | 2004 | |||||||
|
0.611 | 0.600 | 10 | 44372809 | 3 prime UTR variant | C/T | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | |||||||
|
0.925 | 0.120 | 1 | 78360228 | intron variant | C/T | snv | 0.92 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||||
|
0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.672 | 0.360 | 6 | 149400554 | missense variant | G/A | snv | 0.55 | 0.57 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.562 | 0.760 | 6 | 31575324 | upstream gene variant | G/A | snv | 4.6E-02 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.240 | 6 | 53545239 | intron variant | G/A;T | snv | 6.2E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.637 | 0.600 | 22 | 46198429 | missense variant | G/C;T | snv | 4.0E-06; 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2006 | 2006 | ||||||||
|
0.662 | 0.640 | 3 | 10289773 | missense variant | G/T | snv | 8.8E-02 | 7.1E-02 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||
|
0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 |
|
0.010 | < 0.001 | 1 | 2012 | 2012 | ||||||||
|
0.776 | 0.400 | 19 | 1106616 | stop gained | T/A;C | snv | 4.2E-06; 0.58 |
|
0.020 | 1.000 | 2 | 2019 | 2019 |