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 | 0.160 | 2 | 54972426 | 3 prime UTR variant | -/TTA | ins | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.160 | 2 | 54972426 | 3 prime UTR variant | -/TTA | ins | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.160 | 2 | 54972426 | 3 prime UTR variant | -/TTA | ins | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 2 | 54948408 | intron variant | C/A | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
2 | 54742242 | intron variant | C/T | snv | 0.13 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
2 | 54742242 | intron variant | C/T | snv | 0.13 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
1.000 | 0.040 | 2 | 54948975 | intron variant | C/T | snv | 0.36 | 0.41 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 54766861 | intron variant | C/T | snv | 9.8E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 54742242 | intron variant | C/T | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 54796463 | intron variant | G/A | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 54796463 | intron variant | G/A | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 54796463 | intron variant | G/A | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 54969820 | intron variant | G/A | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 54786509 | intron variant | G/A | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 54786509 | intron variant | G/A | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.080 | 2 | 54929493 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
2 | 54814185 | intron variant | T/C | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.040 | 2 | 54950168 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
2 | 54760823 | intron variant | TTTTTTTTTTTTTT/-;T;TT;TTT;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTT | delins | 5.5E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 54760823 | intron variant | TTTTTTTTTTTTTT/-;T;TT;TTT;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTT | delins | 5.5E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 54760823 | intron variant | TTTTTTTTTTTTTT/-;T;TT;TTT;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTT | delins | 5.5E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |