| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
22 | 20092080 | intron variant | A/G | snv | 0.40 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 11233902 | intron variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||||
|
14 | 100846756 | non coding transcript exon variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
4 | 103196214 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
5 | 76715788 | intron variant | -/GGCCGCGGGAAGC;GGCCGCGGGAAGCGGCCGCGGGAAGC | delins |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
11 | 535098 | intron variant | T/G | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
7 | 142802725 | 3 prime UTR variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
16 | 11915447 | missense variant | C/A | snv | 0.48 | 0.43 |
|
0.010 | < 0.001 | 1 | 2005 | 2005 | |||||||||
|
15 | 51227749 | intron variant | AGA/-;AGAAGA | delins |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
11 | 23211338 | intergenic variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
16 | 4982458 | intron variant | C/T | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
16 | 4979496 | intron variant | A/G | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
17 | 49370810 | non coding transcript exon variant | T/C | snv | 0.11 | 0.30 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
2 | 216433482 | intron variant | A/G | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
4 | 73410405 | missense variant | G/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 1998 | 1998 | ||||||||||
|
6 | 160633826 | missense variant | C/T | snv | 1.7E-05 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||||
|
12 | 9181030 | stop gained | G/A | snv | 6.6E-03 | 2.1E-03 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
11 | 23174695 | intron variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
16 | 4941276 | intron variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
16 | 4973520 | intron variant | C/T | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1 | 198706883 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
4 | 86701433 | missense variant | A/C | snv | 8.1E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
21 | 34469442 | intron variant | C/A | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
12 | 68808835 | intron variant | T/A | snv | 4.8E-02 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 9527876 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 |