| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 19 | 44644419 | intron variant | T/G | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
18 | 49631816 | intergenic variant | T/C | snv | 0.75 |
|
0.700 | 1.000 | 2 | 2015 | 2018 | ||||||||||
|
1.000 | 0.120 | 5 | 119393591 | 3 prime UTR variant | C/T | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.851 | 0.120 | 15 | 58386313 | intron variant | C/T | snv | 0.24 |
|
0.800 | 1.000 | 4 | 2009 | 2019 | ||||||||
|
0.827 | 0.200 | 2 | 210675783 | missense variant | C/A | snv | 0.30 | 0.33 |
|
0.800 | 1.000 | 3 | 2013 | 2019 | |||||||
|
5 | 133131681 | intergenic variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
14 | 65448149 | intron variant | A/G | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1 | 230169242 | intron variant | A/C;G | snv |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
1 | 149937602 | upstream gene variant | G/A | snv | 4.7E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.925 | 0.080 | 8 | 19990179 | intergenic variant | C/A | snv | 8.4E-02 |
|
0.800 | 1.000 | 4 | 2008 | 2019 | ||||||||
|
8 | 70348225 | intron variant | G/A | snv | 9.9E-02 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
1.000 | 0.040 | 12 | 116723171 | missense variant | T/C | snv | 4.7E-02 | 4.4E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
19 | 44909976 | non coding transcript exon variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
4 | 26048829 | intergenic variant | C/- | del | 0.18 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
12 | 7498542 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
12 | 109527707 | intron variant | C/G | snv | 0.57 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
10 | 63267850 | intron variant | A/T | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
11 | 47340914 | intron variant | G/C | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
12 | 123290580 | 3 prime UTR variant | G/A | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
12 | 124799220 | intron variant | C/T | snv | 0.63 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||||
|
12 | 124853983 | intron variant | C/T | snv | 0.63 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | ||||||||||
|
15 | 58431280 | intron variant | T/C | snv | 0.34 |
|
0.700 | 1.000 | 5 | 2010 | 2019 | ||||||||||
|
15 | 58431227 | intron variant | A/G | snv | 0.34 |
|
0.800 | 1.000 | 3 | 2013 | 2019 | ||||||||||
|
11 | 110109220 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
0.882 | 0.160 | 11 | 116768388 | intron variant | A/G;T | snv | 0.93 |
|
0.700 | 1.000 | 2 | 2011 | 2019 |