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 | 0.160 | 22 | 30617309 | intron variant | G/A | snv | 8.8E-02 | 0.12 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.080 | 22 | 30614430 | missense variant | G/A | snv | 7.1E-04 | 3.1E-04 |
|
0.710 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.080 | 22 | 30614430 | missense variant | G/A | snv | 7.1E-04 | 3.1E-04 |
|
0.710 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 22 | 30614416 | frameshift variant | TC/- | delins | 1.2E-04 | 1.5E-04 |
|
0.700 | 1.000 | 2 | 2010 | 2014 | ||||||||
|
1.000 | 0.160 | 22 | 30613852 | intron variant | C/T | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
22 | 30624354 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
1.000 | 0.160 | 22 | 30615936 | intron variant | T/C | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.160 | 22 | 30618390 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.160 | 22 | 30622091 | intron variant | G/A | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
22 | 30616769 | intron variant | T/C | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
22 | 30607082 | 5 prime UTR variant | C/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.160 | 22 | 30619586 | intron variant | C/A | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.160 | 22 | 30619575 | intron variant | G/A | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.160 | 22 | 30615293 | splice region variant | A/C;G;T | snv | 7.9E-02; 2.9E-04; 1.1E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.160 | 22 | 30622085 | intron variant | T/C | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 22 | 30615771 | frameshift variant | TCTG/- | delins | 2.1E-05 |
|
0.700 | 0 | ||||||||||||
|
1.000 | 22 | 30615611 | frameshift variant | -/T | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 22 | 30615125 | intron variant | A/G;T | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 22 | 30613044 | splice donor variant | T/G | snv |
|
0.700 | 0 |