| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 158418394 | intergenic variant | C/A;T | snv |
|
0.700 | 1.000 | 6 | 2011 | 2018 | |||||||||||
|
6 | 150683634 | 5 prime UTR variant | G/C | snv | 8.6E-02 |
|
0.700 | 1.000 | 6 | 2013 | 2019 | ||||||||||
|
12 | 115114632 | intergenic variant | A/G | snv | 0.38 |
|
0.700 | 1.000 | 6 | 2011 | 2019 | ||||||||||
|
5 | 32814922 | regulatory region variant | A/G | snv | 0.65 |
|
0.700 | 1.000 | 5 | 2011 | 2018 | ||||||||||
|
20 | 10988382 | intron variant | A/G | snv | 0.46 |
|
0.700 | 1.000 | 5 | 2011 | 2018 | ||||||||||
|
19 | 11416089 | missense variant | T/A;C;G | snv |
|
0.700 | 1.000 | 5 | 2016 | 2019 | |||||||||||
|
11 | 61510774 | 3 prime UTR variant | T/C | snv | 0.16 |
|
0.700 | 1.000 | 5 | 2016 | 2019 | ||||||||||
|
7 | 45968511 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 4 | 2016 | 2017 | |||||||||||
|
4 | 105990585 | intron variant | G/C | snv | 0.70 |
|
0.700 | 1.000 | 4 | 2017 | 2018 | ||||||||||
|
6 | 126794309 | intron variant | C/G;T | snv | 0.36 |
|
0.700 | 1.000 | 4 | 2013 | 2018 | ||||||||||
|
2 | 164050310 | intron variant | C/T | snv | 0.19 |
|
0.700 | 1.000 | 4 | 2011 | 2018 | ||||||||||
|
11 | 65638129 | 5 prime UTR variant | G/T | snv | 0.15 |
|
0.700 | 1.000 | 4 | 2017 | 2019 | ||||||||||
|
3 | 27521497 | upstream gene variant | C/T | snv | 0.56 |
|
0.700 | 1.000 | 4 | 2017 | 2019 | ||||||||||
|
8 | 11576400 | non coding transcript exon variant | T/C | snv | 0.49 |
|
0.700 | 1.000 | 4 | 2016 | 2018 | ||||||||||
|
3 | 169383098 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 4 | 2011 | 2018 | |||||||||||
|
20 | 59176062 | intron variant | A/G | snv | 0.14 |
|
0.700 | 1.000 | 4 | 2011 | 2018 | ||||||||||
|
10 | 94136183 | intron variant | A/G | snv | 0.38 |
|
0.700 | 1.000 | 4 | 2011 | 2017 | ||||||||||
|
7 | 45970501 | intron variant | C/A;G;T | snv |
|
0.700 | 1.000 | 3 | 2017 | 2019 | |||||||||||
|
12 | 57610139 | upstream gene variant | G/A;C | snv |
|
0.700 | 1.000 | 3 | 2018 | 2019 | |||||||||||
|
6 | 43312975 | intron variant | C/T | snv | 0.46 |
|
0.700 | 1.000 | 3 | 2017 | 2018 | ||||||||||
|
11 | 130403335 | non coding transcript exon variant | A/T | snv | 0.30 |
|
0.700 | 1.000 | 3 | 2017 | 2019 | ||||||||||
|
12 | 49005349 | missense variant | G/C | snv | 2.1E-02 | 2.1E-02 |
|
0.700 | 1.000 | 3 | 2016 | 2019 | |||||||||
|
5 | 32804422 | intergenic variant | T/C | snv | 0.57 |
|
0.700 | 1.000 | 3 | 2011 | 2018 | ||||||||||
|
16 | 2036420 | missense variant | C/T | snv | 3.4E-03 | 3.5E-03 |
|
0.700 | 1.000 | 3 | 2017 | 2019 | |||||||||
|
2 | 164106976 | intron variant | T/C | snv | 0.40 |
|
0.700 | 1.000 | 3 | 2017 | 2018 |