| 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 | 0.520 | 4 | 102267552 | missense variant | C/A;T | snv | 4.0E-06; 4.5E-02 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||
|
1.000 | 0.040 | 8 | 142235609 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 3 | 2018 | 2019 | |||||||||
|
2 | 156630761 | intergenic variant | C/G | snv | 0.51 |
|
0.700 | 1.000 | 3 | 2017 | 2019 | ||||||||||
|
2 | 143492918 | intron variant | C/T | snv | 0.28 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||||
|
1.000 | 0.040 | 7 | 133746181 | intron variant | C/A;T | snv | 0.48 |
|
0.700 | 1.000 | 3 | 2017 | 2019 | ||||||||
|
1.000 | 0.040 | 10 | 100152437 | intron variant | C/T | snv | 0.32 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||
|
4 | 101786634 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 3 | 2018 | 2019 | |||||||||||
|
1 | 72167202 | intron variant | A/G | snv | 7.4E-02 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||||
|
6 | 97849956 | intron variant | T/C | snv | 0.26 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||||
|
15 | 40413218 | intron variant | G/A | snv | 0.12 |
|
0.700 | 1.000 | 3 | 2017 | 2019 | ||||||||||
|
4 | 2715963 | intron variant | C/T | snv | 0.44 |
|
0.700 | 1.000 | 3 | 2017 | 2019 | ||||||||||
|
20 | 49106590 | intergenic variant | G/C | snv | 0.47 |
|
0.700 | 1.000 | 3 | 2017 | 2019 | ||||||||||
|
3 | 50164798 | intron variant | T/C | snv | 0.48 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||||
|
8 | 144519045 | intron variant | C/T | snv | 0.43 |
|
0.700 | 1.000 | 3 | 2017 | 2019 | ||||||||||
|
16 | 71545764 | intron variant | A/C | snv | 0.71 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||||
|
16 | 24755520 | intron variant | T/C | snv | 0.35 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||||
|
1.000 | 0.040 | 4 | 25407216 | missense variant | G/A;T | snv | 0.15; 4.1E-06 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||
|
5 | 88733391 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 3 | 2017 | 2019 | |||||||||||
|
6 | 97974115 | intron variant | T/C | snv | 0.43 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||||
|
7 | 133945710 | intron variant | C/T | snv | 0.53 |
|
0.700 | 1.000 | 3 | 2017 | 2019 | ||||||||||
|
2 | 100342342 | intergenic variant | C/A;T | snv |
|
0.700 | 1.000 | 3 | 2018 | 2019 | |||||||||||
|
3 | 49568755 | intron variant | A/C | snv | 0.19 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||||
|
5 | 88867954 | intron variant | G/A | snv | 0.47 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||||
|
10 | 102120361 | 5 prime UTR variant | G/A;T | snv |
|
0.700 | 1.000 | 3 | 2018 | 2019 | |||||||||||
|
6 | 108535175 | intron variant | C/T | snv | 0.24 |
|
0.700 | 1.000 | 3 | 2018 | 2019 |