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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.800 | 0.977 | 42 | 2010 | 2020 | ||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.800 | 1.000 | 14 | 2011 | 2019 | ||||||||
|
0.614 | 0.280 | 15 | 90087472 | missense variant | C/T | snv | 2.0E-03 | 1.6E-03 |
|
0.100 | 0.909 | 11 | 2011 | 2020 | |||||||
|
0.627 | 0.400 | 17 | 7673751 | missense variant | C/A;G;T | snv | 1.6E-04 | 1.3E-04 |
|
0.100 | 0.909 | 11 | 2011 | 2018 | |||||||
|
0.683 | 0.080 | 1 | 226064434 | missense variant | A/T | snv |
|
0.080 | 1.000 | 8 | 2013 | 2018 | |||||||||
|
0.742 | 0.160 | 1 | 226064451 | missense variant | G/C | snv |
|
0.740 | 1.000 | 4 | 2013 | 2017 | |||||||||
|
0.763 | 0.080 | 1 | 226064454 | missense variant | G/A | snv |
|
0.040 | 1.000 | 4 | 2013 | 2017 | |||||||||
|
0.649 | 0.320 | 5 | 1295234 | upstream gene variant | A/G | snv | 0.25 |
|
0.040 | 1.000 | 4 | 2015 | 2017 | ||||||||
|
0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 |
|
0.740 | 1.000 | 4 | 2009 | 2018 | ||||||||
|
0.742 | 0.080 | 6 | 27872233 | missense variant | T/A | snv |
|
0.030 | 1.000 | 3 | 2012 | 2018 | |||||||||
|
0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 |
|
0.030 | 1.000 | 3 | 2010 | 2018 | |||||||
|
0.763 | 0.080 | 20 | 63680946 | intron variant | T/C | snv | 0.81 |
|
0.730 | 1.000 | 3 | 2010 | 2018 | ||||||||
|
0.776 | 0.240 | 11 | 118606652 | 5 prime UTR variant | A/G;T | snv |
|
0.030 | 1.000 | 3 | 2011 | 2020 | |||||||||
|
0.701 | 0.360 | 20 | 63678486 | intron variant | A/C;G | snv |
|
0.030 | 1.000 | 3 | 2011 | 2020 | |||||||||
|
0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 |
|
0.030 | 1.000 | 3 | 2012 | 2016 | |||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.020 | < 0.001 | 2 | 2005 | 2020 | ||||||||
|
0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 |
|
0.020 | 0.500 | 2 | 2009 | 2020 | |||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.020 | 1.000 | 2 | 2006 | 2008 | |||||||
|
0.716 | 0.160 | 7 | 106867593 | missense variant | T/G | snv | 8.4E-06 |
|
0.020 | 0.500 | 2 | 2007 | 2017 | ||||||||
|
0.732 | 0.200 | 10 | 129467281 | synonymous variant | C/T | snv | 5.5E-02 | 5.1E-02 |
|
0.020 | 1.000 | 2 | 2013 | 2015 | |||||||
|
0.581 | 0.680 | 16 | 27363079 | missense variant | A/G | snv | 0.25 | 0.36 |
|
0.020 | 1.000 | 2 | 2007 | 2013 | |||||||
|
0.742 | 0.160 | 15 | 40695330 | 5 prime UTR variant | G/C | snv | 0.12 |
|
0.020 | 1.000 | 2 | 2016 | 2018 | ||||||||
|
0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 |
|
0.020 | 1.000 | 2 | 2015 | 2018 | ||||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
0.020 | 1.000 | 2 | 2013 | 2016 | |||||||
|
0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 |
|
0.020 | 1.000 | 2 | 2011 | 2015 |