| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 6172380 | intergenic variant | A/G | snv | 0.15 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 0.080 | 16 | 11136846 | intron variant | T/C | snv | 0.23 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.040 | 5 | 40486794 | intron variant | G/T | snv | 0.52 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.160 | 17 | 39911790 | intron variant | T/A;C | snv |
|
0.800 | 1.000 | 1 | 2013 | 2018 | |||||||||
|
6 | 31384336 | upstream gene variant | T/C | snv | 0.18 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 0.080 | 17 | 39917778 | non coding transcript exon variant | T/A;C | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.120 | 2 | 102316052 | intron variant | G/A;T | snv |
|
0.800 | 1.000 | 1 | 2013 | 2016 | |||||||||
|
10 | 9011169 | regulatory region variant | C/T | snv | 0.34 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.925 | 0.080 | 3 | 188411191 | intron variant | G/A | snv | 0.34 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.776 | 0.240 | 12 | 57095926 | 3 prime UTR variant | T/C | snv | 8.0E-02 |
|
0.700 | 1.000 | 3 | 2016 | 2018 | ||||||||
|
0.882 | 0.080 | 19 | 33230549 | upstream gene variant | C/T | snv | 5.5E-02 |
|
0.700 | 1.000 | 2 | 2017 | 2018 | ||||||||
|
0.882 | 0.120 | 12 | 56007301 | upstream gene variant | G/A | snv | 0.50 |
|
0.700 | 1.000 | 2 | 2017 | 2018 | ||||||||
|
1.000 | 0.120 | 16 | 11183501 | downstream gene variant | C/T | snv | 0.39 |
|
0.700 | 1.000 | 2 | 2016 | 2017 | ||||||||
|
0.882 | 0.160 | 10 | 9007290 | intergenic variant | C/G;T | snv |
|
0.700 | 1.000 | 2 | 2017 | 2018 | |||||||||
|
1.000 | 0.120 | 6 | 32658626 | upstream gene variant | A/G | snv | 0.29 |
|
0.700 | 1.000 | 2 | 2016 | 2017 | ||||||||
|
0.851 | 0.120 | 2 | 241759225 | intron variant | G/A | snv | 0.27 |
|
0.700 | 1.000 | 2 | 2017 | 2018 | ||||||||
|
0.776 | 0.280 | 10 | 6052734 | intron variant | C/T | snv | 5.7E-02 |
|
0.700 | 1.000 | 2 | 2017 | 2018 | ||||||||
|
0.925 | 0.080 | 7 | 20521373 | intergenic variant | T/C;G | snv |
|
0.700 | 1.000 | 2 | 2017 | 2018 | |||||||||
|
8 | 80380364 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 2 | 2016 | 2017 | |||||||||||
|
0.882 | 0.160 | 11 | 76582714 | intergenic variant | G/A | snv | 0.44 |
|
0.700 | 1.000 | 2 | 2016 | 2017 | ||||||||
|
1.000 | 0.080 | 4 | 38743861 | intergenic variant | T/C | snv | 0.66 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
4 | 4773674 | intron variant | A/G | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
5 | 142115369 | intron variant | C/T | snv | 0.67 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1.000 | 0.080 | 5 | 132724891 | intron variant | C/A | snv | 0.62 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 2 | 234770601 | regulatory region variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 |