| 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 | 44546601 | intron variant | A/C | snv | 0.30 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||||
|
1 | 66525663 | intergenic variant | T/C | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 217549548 | intron variant | -/T | ins | 0.23 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 156486737 | intron variant | T/G | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 6212077 | intron variant | A/- | del | 0.11 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 9940418 | intron variant | A/T | snv | 5.8E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 87427449 | regulatory region variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
1 | 207915947 | non coding transcript exon variant | T/C | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 207955377 | upstream gene variant | G/A | snv | 0.60 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
1 | 207774716 | intron variant | T/C | snv | 9.4E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.040 | 1 | 39525916 | 3 prime UTR variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1 | 207788387 | intron variant | G/A | snv | 9.2E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.040 | 1 | 10662447 | intron variant | C/T | snv | 4.9E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1 | 6236178 | intron variant | T/G | snv | 0.57 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
2 | 178975161 | missense variant | G/A | snv | 3.0E-02 | 2.6E-02 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | |||||||||
|
0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | |||||||
|
2 | 231404173 | downstream gene variant | A/C | snv | 0.22 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||||
|
2 | 219434819 | upstream gene variant | G/T | snv | 0.44 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||||
|
2 | 59779570 | intron variant | G/T | snv | 0.66 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.040 | 2 | 28613010 | intron variant | C/G | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
2 | 178860510 | intron variant | G/T | snv | 6.3E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 159196220 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
1.000 | 0.040 | 2 | 217802649 | 3 prime UTR variant | T/A;C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
2 | 227269439 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
2 | 174682945 | intron variant | CCCGCCGCCCC/-;CCCGCCGCCCCCCCGCCGCCCC;CCCGCCGCCCCCCCGCCGCCCCCCCGCCGCCCC;CCCGCCGCCCCCCCGCCGCCCCCCCGCCGCCCCCCCGCCGCCCC | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 |