| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.100 | 1.000 | 12 | 1998 | 2019 | |||||||
|
0.574 | 0.680 | 1 | 169546513 | missense variant | T/C | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2006 | 2013 | ||||||||
|
0.882 | 0.280 | 1 | 11273836 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.882 | 0.360 | 1 | 241508643 | missense variant | C/A;T | snv | 4.0E-06; 1.6E-05 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.689 | 0.560 | 1 | 247425556 | missense variant | C/A | snv | 3.9E-02 | 3.3E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.851 | 0.200 | 1 | 100731231 | missense variant | G/A;C | snv | 4.0E-06; 9.9E-03 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.280 | 1 | 11285644 | missense variant | G/A | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 1 | 109686818 | intron variant | GT/- | delins |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.240 | 1 | 179345018 | synonymous variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 1 | 241502559 | missense variant | G/A;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.827 | 0.120 | 2 | 60490908 | intron variant | T/C;G | snv |
|
0.710 | 1.000 | 3 | 2011 | 2019 | |||||||||
|
0.925 | 0.080 | 2 | 60492835 | intron variant | C/A | snv | 0.80 |
|
0.700 | 1.000 | 3 | 2011 | 2014 | ||||||||
|
0.752 | 0.280 | 2 | 60493111 | intron variant | C/T | snv | 0.65 |
|
0.710 | 1.000 | 2 | 2011 | 2016 | ||||||||
|
0.790 | 0.400 | 2 | 60493816 | intron variant | A/C;G | snv |
|
0.710 | 1.000 | 2 | 2011 | 2016 | |||||||||
|
1.000 | 0.080 | 2 | 60493622 | intron variant | G/A | snv | 0.64 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 2 | 60486100 | intron variant | A/G | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 2 | 60493454 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.080 | 2 | 105998818 | intergenic variant | T/C | snv | 7.1E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.620 | 0.720 | 2 | 112785383 | upstream gene variant | G/A;C | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 2 | 60491939 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.080 | 2 | 60496951 | intron variant | T/C | snv | 0.81 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 2 | 60496952 | intron variant | G/T | snv | 0.80 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 2 | 203706103 | upstream gene variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 |