| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.080 | 2 | 214780411 | intron variant | A/G | snv | 0.74 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.080 | 4 | 85931021 | missense variant | C/T | snv | 2.0E-05 | 3.5E-05 |
|
0.010 | < 0.001 | 1 | 2001 | 2001 | |||||||
|
0.882 | 0.080 | 4 | 8616210 | intron variant | C/T | snv | 0.23 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.080 | 4 | 8611299 | intron variant | G/A | snv | 0.26 | 0.32 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.851 | 0.080 | 1 | 10303606 | missense variant | G/T | snv | 1.8E-02 | 1.9E-02 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||
|
0.882 | 0.080 | 22 | 28689164 | missense variant | A/C;G;T | snv | 1.3E-05; 7.3E-05 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.882 | 0.080 | 2 | 15947252 | downstream gene variant | G/A | snv | 4.3E-02 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.851 | 0.080 | 3 | 25439731 | intron variant | T/A | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.080 | 4 | 99412110 | downstream gene variant | G/A | snv | 0.78 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.807 | 0.080 | 1 | 7962863 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.807 | 0.080 | 1 | 7984930 | missense variant | A/C | snv | 1.4E-04 | 5.9E-04 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.790 | 0.080 | 1 | 20644639 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.827 | 0.080 | 1 | 20633708 | missense variant | G/A | snv | 6.9E-05 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.080 | 1 | 3683085 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | < 0.001 | 1 | 2001 | 2001 | |||||||
|
0.882 | 0.080 | 9 | 8341203 | missense variant | G/T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.080 | 11 | 2169790 | missense variant | C/A | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.080 | 9 | 32500886 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.080 | 7 | 116782017 | missense variant | T/C;G | snv | 4.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.080 | 4 | 85570622 | synonymous variant | G/A | snv | 1.6E-05 |
|
0.010 | < 0.001 | 1 | 2001 | 2001 | ||||||||
|
0.882 | 0.080 | 8 | 26864314 | missense variant | T/C | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.790 | 0.080 | 1 | 7970951 | missense variant | G/A;T | snv | 3.9E-04; 2.0E-05 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.851 | 0.080 | 3 | 12416967 | missense variant | G/C | snv | 4.4E-05 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.851 | 0.080 | 1 | 16995981 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.080 | 12 | 25208208 | 3 prime UTR variant | A/G | snv | 0.20 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.080 | 3 | 44805230 | intron variant | T/A | snv | 3.6E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 |