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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.120 | 1 | 119514623 | missense variant | C/A | snv | 0.75 |
|
0.020 | 1.000 | 2 | 2002 | 2007 | ||||||||
|
0.695 | 0.320 | 13 | 102852167 | synonymous variant | T/C | snv | 0.52 | 0.59 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.708 | 0.280 | 1 | 241878999 | missense variant | G/A | snv | 0.36 | 0.40 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.851 | 0.120 | 14 | 68564567 | intron variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.851 | 0.120 | 7 | 27936944 | intron variant | G/A | snv | 0.28 |
|
0.050 | 0.800 | 5 | 2010 | 2014 | ||||||||
|
0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 |
|
0.050 | 1.000 | 5 | 2005 | 2019 | |||||||
|
0.790 | 0.200 | 4 | 184628935 | 3 prime UTR variant | A/G | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | 8 | 23676505 | downstream gene variant | G/T | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.623 | 0.600 | 3 | 49357401 | missense variant | G/A | snv | 0.28 | 0.30 |
|
0.040 | 1.000 | 4 | 2007 | 2014 | |||||||
|
0.925 | 0.080 | 8 | 118951604 | intron variant | G/T | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.080 | 8 | 127405259 | intron variant | T/C | snv | 0.47 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.658 | 0.400 | 8 | 127395198 | intron variant | A/G | snv | 0.40 |
|
0.700 | 1.000 | 2 | 2008 | 2013 | ||||||||
|
0.925 | 0.080 | 8 | 127112950 | intron variant | C/T | snv | 0.16 |
|
0.700 | 1.000 | 2 | 2008 | 2012 | ||||||||
|
0.708 | 0.320 | 15 | 60997989 | intron variant | C/T | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 |
|
0.070 | 0.857 | 7 | 2003 | 2015 | |||||||
|
0.807 | 0.200 | 1 | 15506048 | missense variant | T/A;C | snv | 0.53 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.683 | 0.400 | 2 | 38075034 | missense variant | C/A | snv | 0.32 | 0.35 |
|
0.030 | 1.000 | 3 | 2005 | 2015 | |||||||
|
0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 |
|
0.100 | 0.900 | 10 | 2000 | 2018 | ||||||||
|
0.851 | 0.080 | X | 67723707 | missense variant | T/C | snv |
|
0.020 | 1.000 | 2 | 2013 | 2015 | |||||||||
|
0.776 | 0.200 | X | 71129408 | missense variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.080 | 17 | 49619064 | missense variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.080 | 17 | 49619327 | missense variant | A/T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.742 | 0.360 | 17 | 7673800 | missense variant | C/A;G | snv |
|
0.020 | 1.000 | 2 | 2013 | 2016 | |||||||||
|
0.925 | 0.080 | 19 | 50860142 | 3 prime UTR variant | C/T | snv | 0.75 | 0.74 |
|
0.720 | 1.000 | 3 | 2008 | 2018 | |||||||
|
0.882 | 0.200 | 19 | 18388612 | missense variant | C/G;T | snv | 0.24; 9.1E-06 |
|
0.020 | 1.000 | 2 | 2006 | 2018 |