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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.040 | 19 | 11236817 | synonymous variant | T/C | snv | 0.15 | 0.20 |
|
0.800 | 1.000 | 6 | 2010 | 2019 | |||||||
|
1.000 | 0.080 | 19 | 11239812 | missense variant | C/T | snv | 0.11 | 0.11 |
|
0.800 | 1.000 | 3 | 2013 | 2019 | |||||||
|
19 | 11232027 | intron variant | A/G | snv | 0.30 |
|
0.800 | 1.000 | 2 | 2013 | 2019 | ||||||||||
|
1.000 | 0.080 | 19 | 11239812 | missense variant | C/T | snv | 0.11 | 0.11 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | |||||||
|
1.000 | 0.080 | 19 | 11239812 | missense variant | C/T | snv | 0.11 | 0.11 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||
|
19 | 11223619 | intron variant | C/G | snv | 0.18 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||||
|
0.925 | 0.040 | 19 | 11236817 | synonymous variant | T/C | snv | 0.15 | 0.20 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||
|
1.000 | 0.080 | 19 | 11230959 | intron variant | T/C | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
19 | 11232027 | intron variant | A/G | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
19 | 11232027 | intron variant | A/G | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.080 | 19 | 11240198 | stop gained | C/G;T | snv | 6.3E-04 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
19 | 11233119 | intron variant | A/G | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
19 | 11231923 | intron variant | C/T | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
19 | 11230353 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
1.000 | 0.080 | 19 | 11239812 | missense variant | C/T | snv | 0.11 | 0.11 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 19 | 11239812 | missense variant | C/T | snv | 0.11 | 0.11 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
19 | 11235874 | intron variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
19 | 11223619 | intron variant | C/G | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
19 | 11223619 | intron variant | C/G | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
19 | 11207068 | intron variant | C/G;T | snv | 1.3E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
19 | 11239650 | missense variant | G/A | snv | 6.8E-03 | 2.6E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.925 | 0.040 | 19 | 11236817 | synonymous variant | T/C | snv | 0.15 | 0.20 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |