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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 82216983 | intergenic variant | C/T | snv | 0.52 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
9 | 23345349 | intron variant | A/G | snv | 0.32 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||||
|
1 | 41284976 | intron variant | C/A | snv | 0.17 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
1.000 | 0.040 | 5 | 107837492 | intergenic variant | G/A | snv | 0.12 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 6 | 28744470 | intergenic variant | A/G;T | snv | 0.21 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||
|
5 | 68329242 | regulatory region variant | T/C;G | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||||
|
4 | 703059 | upstream gene variant | C/T | snv | 0.12 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
1.000 | 0.040 | 18 | 38549487 | intergenic variant | A/C;T | snv |
|
0.700 | 1.000 | 2 | 2017 | 2019 | |||||||||
|
1.000 | 0.040 | 8 | 141601871 | intron variant | C/T | snv | 0.28 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 19 | 18333999 | downstream gene variant | A/G;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||
|
1.000 | 0.040 | 7 | 32447368 | intergenic variant | G/C | snv | 0.28 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
8 | 21057805 | intron variant | A/G | snv | 0.22 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
7 | 32453557 | downstream gene variant | A/T | snv | 0.34 |
|
0.700 | 1.000 | 2 | 2017 | 2018 | ||||||||||
|
5 | 90057393 | regulatory region variant | G/A | snv | 0.24 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
19 | 12419363 | intron variant | G/A | snv | 0.12 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
5 | 63695975 | intergenic variant | G/A;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||||
|
6 | 97865347 | intron variant | C/G | snv | 0.33 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||||
|
2 | 100253240 | downstream gene variant | C/A;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2018 | |||||||||||
|
1 | 68973094 | upstream gene variant | T/A | snv | 0.78 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
2 | 154691341 | non coding transcript exon variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||||
|
14 | 40664963 | intron variant | A/G | snv | 0.38 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
7 | 133245048 | intergenic variant | C/T | snv | 0.14 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
1 | 31596465 | regulatory region variant | G/T | snv | 0.33 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
22 | 39444823 | intergenic variant | C/A;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||||
|
20 | 48915999 | intergenic variant | A/G | snv | 0.38 |
|
0.700 | 1.000 | 2 | 2019 | 2019 |