| 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 | 0.080 | X | 127010099 | intergenic variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.882 | 0.120 | X | 53557457 | intron variant | G/A | snv | 9.0E-02 | 4.2E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.080 | X | 71119403 | missense variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.620 | 0.680 | X | 49261784 | intron variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.790 | 0.080 | X | 9783434 | intron variant | T/C | snv | 0.50 |
|
0.810 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 |
|
0.090 | 0.889 | 9 | 2006 | 2013 | ||||||||
|
0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 |
|
0.020 | 0.500 | 2 | 2014 | 2019 | |||||||
|
1.000 | 0.080 | 22 | 38169236 | missense variant | T/A;C | snv | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 22 | 50523735 | missense variant | A/G | snv | 8.0E-06 |
|
0.010 | < 0.001 | 1 | 2007 | 2007 | ||||||||
|
0.677 | 0.400 | 22 | 30615623 | missense variant | G/A;C | snv | 5.6E-05; 0.57 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.708 | 0.320 | 22 | 35380679 | intron variant | A/T | snv | 0.49 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.827 | 0.120 | 22 | 28741956 | 5 prime UTR variant | G/C | snv | 0.66 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.724 | 0.320 | 22 | 41620695 | intron variant | C/A;G | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.080 | 22 | 35067169 | missense variant | A/G | snv | 0.71 | 0.73 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.080 | 22 | 21653137 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.732 | 0.200 | 22 | 21630090 | upstream gene variant | G/A | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 22 | 38129537 | missense variant | G/C | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 22 | 28694902 | intron variant | G/A | snv | 6.3E-02 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | 22 | 36855419 | intron variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.080 | 22 | 30622574 | intron variant | T/G | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.120 | 22 | 28712568 | intron variant | A/T | snv | 8.4E-02 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 21 | 26837076 | 3 prime UTR variant | T/C | snv | 7.7E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.752 | 0.360 | 21 | 43058894 | missense variant | T/G | snv | 5.6E-06 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
1.000 | 0.080 | 21 | 25566041 | intron variant | T/C | snv | 0.24 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 21 | 25568503 | intron variant | T/C | snv | 0.60 |
|
0.010 | 1.000 | 1 | 2019 | 2019 |