| 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 | 6 | 160585045 | splice donor variant | C/A;T | snv | 1.2E-05; 4.1E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
6 | 160566028 | intron variant | A/G | snv | 9.9E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1.000 | 0.040 | 6 | 160559298 | intron variant | T/C | snv | 0.57 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
6 | 160570766 | intron variant | C/T | snv | 0.80 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
6 | 160539327 | intron variant | T/C | snv | 0.88 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 0.040 | 6 | 160598834 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 6 | 160598834 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
6 | 160565883 | intron variant | A/C | snv | 0.85 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
0.925 | 0.080 | 6 | 160576086 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.925 | 0.080 | 6 | 160576086 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.925 | 0.080 | 6 | 160576086 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.080 | 6 | 160576086 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
6 | 160597953 | intron variant | G/A | snv | 2.0E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
6 | 160609199 | intron variant | C/A | snv | 9.2E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
6 | 160564469 | intron variant | T/C | snv | 8.2E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
6 | 160591238 | intron variant | C/T | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 160649958 | intron variant | G/A | snv | 9.7E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
1.000 | 0.040 | 6 | 160597142 | intron variant | C/T | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
6 | 160596961 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
6 | 160596961 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
6 | 160610221 | intron variant | C/T | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
6 | 160545315 | intron variant | G/C | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
6 | 160648258 | intron variant | C/T | snv | 5.4E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
1.000 | 0.080 | 6 | 160650438 | stop gained | G/A;C;T | snv | 1.2E-05; 4.0E-06; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.732 | 0.160 | 6 | 160540105 | missense variant | T/C | snv | 5.6E-02 | 3.1E-02 |
|
0.090 | 0.778 | 9 | 2007 | 2019 |