| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.040 | 5 | 2640009 | regulatory region variant | A/G | snv | 0.63 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.716 | 0.320 | 9 | 104818690 | synonymous variant | A/G | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.040 | 0.750 | 4 | 2006 | 2013 | ||||||||
|
0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.040 | 16 | 16142147 | 3 prime UTR variant | T/A | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.649 | 0.280 | 10 | 88989499 | intron variant | G/A;T | snv | 0.15 |
|
0.020 | 1.000 | 2 | 2010 | 2012 | ||||||||
|
1.000 | 0.040 | 16 | 57655971 | synonymous variant | T/C | snv | 0.76 | 0.79 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.807 | 0.160 | 2 | 29209816 | missense variant | C/G | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.160 | 10 | 27100324 | start lost | C/T | snv | 2.7E-04 | 2.0E-04 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.851 | 0.120 | 22 | 38984136 | missense variant | C/A | snv | 4.1E-06 |
|
0.020 | 1.000 | 2 | 2009 | 2015 | ||||||||
|
1.000 | 0.040 | 5 | 143226004 | 3 prime UTR variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.742 | 0.200 | 10 | 61963818 | intron variant | C/T | snv | 0.69 |
|
0.020 | 1.000 | 2 | 2014 | 2019 | ||||||||
|
0.790 | 0.120 | 10 | 61950345 | intron variant | A/G | snv | 0.49 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.040 | 10 | 62094648 | 3 prime UTR variant | A/G | snv | 3.9E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.040 | 10 | 61900930 | upstream gene variant | G/A | snv | 0.51 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.120 | 10 | 61940136 | intron variant | A/C | snv | 0.58 | 0.64 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.752 | 0.200 | 10 | 61992400 | intron variant | T/G | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | X | 40074459 | missense variant | C/A;T | snv | 6.1E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | X | 130013883 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 9 | 113424228 | frameshift variant | -/G | delins | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.807 | 0.200 | 1 | 15506048 | missense variant | T/A;C | snv | 0.53 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.807 | 0.240 | 11 | 119278181 | missense variant | T/A;C | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.040 | 11 | 119278541 | missense variant | G/A | snv | 4.0E-06 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.882 | 0.160 | 21 | 36073015 | 3 prime UTR variant | G/A | snv | 9.7E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 |