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 | 0.040 | 4 | 105185196 | intron variant | C/A;G;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||
|
4 | 105199599 | intron variant | T/A;G | snv |
|
0.700 | 1.000 | 2 | 2017 | 2019 | |||||||||||
|
1.000 | 0.040 | 4 | 105185196 | intron variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.040 | 4 | 105185196 | intron variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
4 | 105271300 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
0.851 | 0.160 | 4 | 105275794 | missense variant | A/G;T | snv | 0.30; 6.4E-06 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
4 | 105153669 | intron variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1.000 | 0.040 | 4 | 105227601 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 4 | 105227601 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
4 | 105204229 | intron variant | TATA/-;TA;TATATA | delins | 6.5E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
4 | 105229398 | intron variant | C/T | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 4 | 105218230 | intron variant | T/C | snv | 0.12 |
|
0.810 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
4 | 105238976 | 3 prime UTR variant | G/A | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.925 | 0.080 | 4 | 105163621 | intron variant | C/T | snv | 0.20 |
|
0.710 | 1.000 | 3 | 2013 | 2017 | ||||||||
|
4 | 105166665 | intron variant | A/G | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
4 | 105278348 | 3 prime UTR variant | A/T | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
4 | 105213159 | intron variant | G/A;T | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
4 | 105195057 | intron variant | -/T | delins | 0.31 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
4 | 105149907 | intron variant | A/G | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.080 | 4 | 105147856 | intron variant | G/T | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
4 | 105263072 | intron variant | C/T | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
4 | 105231827 | intron variant | T/C | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
4 | 105231827 | intron variant | T/C | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.040 | 4 | 105215876 | intron variant | G/A | snv | 0.49 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||
|
1.000 | 0.040 | 4 | 105215876 | intron variant | G/A | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2015 | 2015 |