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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 10 | 50859904 | missense variant | C/A;T | snv | 6.0E-05; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
10 | 50808856 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||||
|
0.925 | 0.120 | 10 | 50885664 | 5 prime UTR variant | C/T | snv | 0.19 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
0.925 | 0.120 | 10 | 50885664 | 5 prime UTR variant | C/T | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.120 | 10 | 50885488 | intron variant | G/A | snv | 0.19 |
|
0.700 | 1.000 | 3 | 2017 | 2019 | ||||||||
|
10 | 50814012 | missense variant | C/A;T | snv | 4.0E-06; 5.3E-03 |
|
0.700 | 1.000 | 3 | 2017 | 2019 | ||||||||||
|
0.882 | 0.160 | 10 | 50824350 | intron variant | T/C | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 10 | 50843482 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.160 | 10 | 50852341 | intron variant | G/A | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.120 | 10 | 50885488 | intron variant | G/A | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.160 | 10 | 50818978 | intron variant | A/G | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 10 | 50848012 | intron variant | C/T | snv | 5.2E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 10 | 50866013 | intron variant | A/G | snv | 9.9E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 10 | 50852902 | intron variant | C/T | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 10 | 50867812 | intron variant | G/T | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 10 | 50837871 | intron variant | C/T | snv | 2.2E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
10 | 50814012 | missense variant | C/A;T | snv | 4.0E-06; 5.3E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
10 | 50814012 | missense variant | C/A;T | snv | 4.0E-06; 5.3E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.925 | 0.120 | 10 | 50886333 | upstream gene variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.120 | 10 | 50885488 | intron variant | G/A | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 10 | 50885664 | 5 prime UTR variant | C/T | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
10 | 50814012 | missense variant | C/A;T | snv | 4.0E-06; 5.3E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |