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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 45517829 | intron variant | A/C;T | snv |
|
0.800 | 1.000 | 3 | 2013 | 2018 | |||||||||||
|
10 | 45517829 | intron variant | A/C;T | snv |
|
0.800 | 1.000 | 2 | 2013 | 2017 | |||||||||||
|
10 | 45529281 | intron variant | A/G | snv | 0.31 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
10 | 45507812 | intron variant | AAA/-;AA;AAAA;AAAAA | delins |
|
0.700 | 1.000 | 2 | 2016 | 2017 | |||||||||||
|
10 | 45507812 | intron variant | AAA/-;AA;AAAA;AAAAA | delins |
|
0.700 | 1.000 | 2 | 2016 | 2017 | |||||||||||
|
1.000 | 0.080 | 10 | 45587537 | intron variant | T/C | snv | 5.7E-02 |
|
0.700 | 1.000 | 2 | 2014 | 2018 | ||||||||
|
10 | 45470974 | intron variant | G/A | snv | 6.3E-02 |
|
0.700 | 1.000 | 2 | 2012 | 2017 | ||||||||||
|
10 | 45573988 | intron variant | T/C | snv | 6.5E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
10 | 45487060 | intron variant | T/C | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
10 | 45487060 | intron variant | T/C | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
10 | 45506418 | intron variant | C/T | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
10 | 45506418 | intron variant | C/T | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
10 | 45512085 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||||
|
10 | 45523383 | intron variant | A/G | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
10 | 45529281 | intron variant | A/G | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
10 | 45461799 | non coding transcript exon variant | -/A | delins | 0.23 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
10 | 45524767 | intron variant | -/TA | delins | 1.4E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
10 | 45483784 | intron variant | -/TGTTAAGTCAAATAA;TGTTAAGTGAAATAA | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
10 | 45499558 | intron variant | T/C | snv | 1.4E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
10 | 45499558 | intron variant | T/C | snv | 1.4E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
10 | 45463228 | synonymous variant | G/A | snv | 3.7E-02 | 3.4E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
10 | 45468138 | intron variant | T/C | snv | 6.3E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
10 | 45459616 | intron variant | C/T | snv | 7.1E-02 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
10 | 45459616 | intron variant | C/T | snv | 7.1E-02 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
10 | 45459616 | intron variant | C/T | snv | 7.1E-02 |
|
0.700 | 1.000 | 1 | 2010 | 2010 |