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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 31245356 | intergenic variant | C/G;T | snv |
|
0.700 | 1.000 | 2 | 2017 | 2019 | |||||||||||
|
7 | 93053295 | regulatory region variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2017 | 2019 | |||||||||||
|
0.641 | 0.640 | 19 | 44908822 | missense variant | C/T | snv | 6.2E-02 | 7.9E-02 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
21 | 44849611 | 3 prime UTR variant | G/A | snv | 0.14 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||||
|
12 | 54304624 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 2 | 2017 | 2019 | |||||||||||
|
6 | 41957421 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2017 | 2019 | |||||||||||
|
6 | 3162144 | upstream gene variant | C/A | snv | 0.57 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
1.000 | 0.080 | 4 | 152599127 | intergenic variant | G/A | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
5 | 56692951 | intergenic variant | T/C | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
3 | 157079859 | upstream gene variant | C/T | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
5 | 78267439 | intron variant | G/A | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
5 | 36147704 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
8 | 10719265 | downstream gene variant | G/C | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
14 | 64556852 | intron variant | T/C | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
14 | 23128526 | intron variant | C/T | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
10 | 50302023 | downstream gene variant | G/A | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 24034181 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
7 | 36415868 | synonymous variant | T/C | snv | 0.13 | 0.12 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
7 | 6027315 | intron variant | A/G | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
7 | 151706419 | intron variant | T/G | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
7 | 26547477 | upstream gene variant | T/C | snv | 0.80 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
19 | 16124498 | non coding transcript exon variant | C/A | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
19 | 35281568 | intron variant | C/T | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.851 | 0.240 | 2 | 21002409 | missense variant | C/T | snv | 0.70 | 0.78 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |