| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.776 | 0.160 | 19 | 8364439 | missense variant | G/A | snv | 1.3E-02 | 1.5E-02 |
|
0.700 | 1.000 | 7 | 2014 | 2019 | |||||||
|
8 | 9326086 | non coding transcript exon variant | A/G | snv | 0.89 |
|
0.700 | 1.000 | 6 | 2015 | 2019 | ||||||||||
|
15 | 58431280 | intron variant | T/C | snv | 0.34 |
|
0.700 | 1.000 | 5 | 2010 | 2019 | ||||||||||
|
1.000 | 0.080 | 15 | 58387979 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 5 | 2015 | 2019 | |||||||||
|
0.827 | 0.120 | 9 | 104899461 | intron variant | A/C | snv | 0.29 |
|
0.700 | 1.000 | 5 | 2015 | 2019 | ||||||||
|
1.000 | 0.040 | 16 | 56955678 | intergenic variant | C/T | snv | 0.29 |
|
0.700 | 1.000 | 4 | 2010 | 2019 | ||||||||
|
0.590 | 0.600 | 19 | 44908684 | missense variant | T/C | snv | 0.14 | 0.16 |
|
0.700 | 1.000 | 4 | 2015 | 2018 | |||||||
|
0.641 | 0.640 | 19 | 44908822 | missense variant | C/T | snv | 6.2E-02 | 7.9E-02 |
|
0.700 | 1.000 | 4 | 2017 | 2019 | |||||||
|
8 | 20054859 | intergenic variant | G/A | snv | 9.8E-02 |
|
0.700 | 1.000 | 3 | 2015 | 2019 | ||||||||||
|
4 | 102276925 | intron variant | A/G | snv | 5.1E-02 |
|
0.700 | 1.000 | 3 | 2015 | 2019 | ||||||||||
|
7 | 130747779 | intergenic variant | A/T | snv | 0.40 |
|
0.700 | 1.000 | 3 | 2015 | 2019 | ||||||||||
|
15 | 58407738 | intron variant | C/T | snv | 0.31 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||||
|
1.000 | 0.040 | 8 | 19967156 | 3 prime UTR variant | C/T | snv | 0.36 |
|
0.700 | 1.000 | 3 | 2017 | 2019 | ||||||||
|
0.752 | 0.400 | 11 | 116790676 | missense variant | C/A;T | snv | 6.4E-03; 4.0E-06 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||
|
12 | 109524990 | intron variant | G/C | snv | 0.57 |
|
0.700 | 1.000 | 3 | 2015 | 2019 | ||||||||||
|
10 | 112174128 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 3 | 2018 | 2019 | |||||||||||
|
21 | 44851537 | missense variant | C/T | snv | 0.48 | 0.46 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | |||||||||
|
1.000 | 0.040 | 9 | 104839260 | intron variant | G/A | snv | 0.47 |
|
0.700 | 1.000 | 3 | 2016 | 2019 | ||||||||
|
1 | 220796686 | missense variant | A/G | snv | 0.75 | 0.78 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | |||||||||
|
8 | 20033716 | regulatory region variant | C/T | snv | 0.73 |
|
0.700 | 1.000 | 3 | 2016 | 2019 | ||||||||||
|
8 | 125470379 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 3 | 2015 | 2019 | |||||||||||
|
8 | 120856311 | intergenic variant | G/T | snv | 0.55 |
|
0.700 | 1.000 | 3 | 2016 | 2017 | ||||||||||
|
16 | 56953457 | intergenic variant | T/C | snv | 0.26 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||||
|
0.925 | 0.040 | 8 | 9327181 | intron variant | T/C | snv | 0.88 |
|
0.700 | 1.000 | 3 | 2011 | 2019 | ||||||||
|
19 | 33408159 | intron variant | G/A | snv | 0.63 |
|
0.700 | 1.000 | 3 | 2013 | 2018 |