| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.752 | 0.400 | 11 | 116790676 | missense variant | C/A;T | snv | 6.4E-03; 4.0E-06 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||
|
0.763 | 0.440 | 11 | 116789970 | 3 prime UTR variant | G/A | snv | 0.93 |
|
0.800 | 1.000 | 2 | 2011 | 2018 | ||||||||
|
0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 |
|
0.800 | 1.000 | 11 | 2009 | 2019 | ||||||||
|
0.882 | 0.160 | 11 | 116782580 | intron variant | C/G;T | snv |
|
0.800 | 1.000 | 3 | 2011 | 2019 | |||||||||
|
11 | 116780399 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
1.000 | 0.040 | 11 | 116781491 | intron variant | C/T | snv | 0.11 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||
|
1.000 | 0.040 | 11 | 116776891 | 3 prime UTR variant | C/T | snv | 0.92 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
11 | 116786951 | intron variant | C/T | snv | 8.6E-03 | 1.0E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
11 | 116786845 | intron variant | C/T | snv | 0.73 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.882 | 0.080 | 11 | 116781707 | intron variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
11 | 116781775 | intron variant | A/G | snv | 0.93 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
22 | 29004527 | intron variant | G/A | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
17 | 49345001 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
19 | 32363564 | intron variant | C/T | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
20 | 45948343 | downstream gene variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
20 | 45956781 | intron variant | A/G | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
20 | 45961659 | non coding transcript exon variant | C/G | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
20 | 45952814 | intron variant | C/G | snv | 4.7E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
0.851 | 0.120 | 16 | 72963084 | intron variant | C/T | snv | 0.94 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.120 | 12 | 122479003 | intron variant | C/T | snv | 5.9E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
19 | 47093845 | non coding transcript exon variant | T/C | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
19 | 47086638 | intron variant | T/C | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1.000 | 0.040 | 22 | 21627765 | upstream gene variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
17 | 583581 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
16 | 69323503 | 3 prime UTR variant | G/A | snv | 4.1E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |