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 | 0.120 | 5 | 132369766 | 5 prime UTR variant | C/G | snv | 0.59 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
5 | 132335969 | synonymous variant | C/G | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||||
|
5 | 132335969 | synonymous variant | C/G | snv | 3.1E-02 | 2.8E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
5 | 132335969 | synonymous variant | C/G | snv | 3.1E-02 | 2.8E-02 |
|
0.800 | 1.000 | 1 | 2009 | 2016 | |||||||||
|
5 | 132335969 | synonymous variant | C/G | snv | 3.1E-02 | 2.8E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
5 | 132335969 | synonymous variant | C/G | snv | 3.1E-02 | 2.8E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
5 | 132369654 | non coding transcript exon variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
0.776 | 0.480 | 5 | 132340627 | missense variant | C/T | snv | 0.29 | 0.28 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
5 | 132350453 | intron variant | G/A | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
5 | 132350453 | intron variant | G/A | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
5 | 132341949 | intron variant | A/G | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
5 | 132341949 | intron variant | A/G | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
5 | 132341949 | intron variant | A/G | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
5 | 132341949 | intron variant | A/G | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
5 | 132341949 | intron variant | A/G | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
5 | 132316836 | intron variant | A/C | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
5 | 132347093 | intron variant | GAGTTCT/-;GAGTTCTGAGTTCT | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
5 | 132321304 | intron variant | T/C | snv | 0.71 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
5 | 132321007 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||||
|
5 | 132342304 | intron variant | A/G | snv | 0.64 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
5 | 132342304 | intron variant | A/G | snv | 0.64 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1.000 | 0.040 | 5 | 132331660 | intron variant | A/G | snv | 9.5E-02 |
|
0.800 | 1.000 | 1 | 2013 | 2018 | ||||||||
|
5 | 132364175 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
5 | 132329474 | intron variant | TT/-;T;TTT;TTTT;TTTTTTTTTTTTTT | delins | 0.56 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
5 | 132329474 | intron variant | TT/-;T;TTT;TTTT;TTTTTTTTTTTTTT | delins | 0.56 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |