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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 22 | 19765900 | splice acceptor variant | A/G | snv |
|
0.700 | 1.000 | 10 | 1992 | 2016 | ||||||||||
|
1.000 | 0.200 | 22 | 19764224 | missense variant | C/G | snv |
|
0.800 | 1.000 | 4 | 2003 | 2016 | |||||||||
|
0.882 | 0.200 | 22 | 19763273 | missense variant | T/A | snv |
|
0.700 | 1.000 | 2 | 2003 | 2007 | |||||||||
|
1.000 | 0.200 | 22 | 19765921 | missense variant | G/A;T | snv | 5.2E-03 |
|
0.700 | 1.000 | 2 | 2001 | 2016 | ||||||||
|
1.000 | 0.040 | 22 | 19777658 | intron variant | G/C | snv | 0.20 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 22 | 19761154 | missense variant | C/T | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.120 | 22 | 19761154 | missense variant | C/T | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 22 | 19766433 | missense variant | C/A | snv | 2.4E-05 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.040 | 22 | 19762002 | intron variant | A/G | snv | 0.64 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.040 | 22 | 19762002 | intron variant | A/G | snv | 0.64 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 22 | 19770369 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.080 | 22 | 19770369 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.040 | 22 | 19776455 | intron variant | A/G | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 22 | 19779119 | intron variant | G/A | snv | 5.9E-04 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 22 | 19779119 | intron variant | G/A | snv | 5.9E-04 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.120 | 22 | 19764273 | missense variant | G/A | snv | 3.2E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.882 | 0.120 | 22 | 19764273 | missense variant | G/A | snv | 3.2E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.882 | 0.120 | 22 | 19764273 | missense variant | G/A | snv | 3.2E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 22 | 19761255 | stop gained | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.200 | 22 | 19761162 | stop gained | A/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.200 | 22 | 19763273 | missense variant | T/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.200 | 22 | 19763273 | missense variant | T/A | snv |
|
0.700 | 0 |