Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.080 | 4 | 76277833 | intron variant | C/T | snv | 0.38 | 0.020 | 1.000 | 2 | 2015 | 2018 | ||||
|
9 | 0.776 | 0.240 | 4 | 89716450 | intron variant | G/A | snv | 0.54 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 4 | 89836243 | intron variant | G/C | snv | 0.58 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.882 | 0.080 | 4 | 89813384 | intron variant | T/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.851 | 0.160 | 17 | 45846317 | missense variant | A/G | snv | 0.15 | 0.14 | 0.020 | 1.000 | 2 | 2015 | 2018 | |||
|
4 | 0.851 | 0.080 | 12 | 40320099 | missense variant | T/A | snv | 0.30 | 0.27 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
4 | 0.851 | 0.160 | 1 | 155235820 | missense variant | A/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
16 | 0.732 | 0.240 | 16 | 89919736 | missense variant | C/T | snv | 4.7E-02 | 4.8E-02 | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||
|
6 | 0.882 | 0.080 | 4 | 958159 | missense variant | T/C | snv | 0.18 | 0.14 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
78 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
7 | 0.790 | 0.120 | 12 | 40309109 | missense variant | G/A;T | snv | 8.5E-02; 1.6E-05 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
7 | 0.790 | 0.120 | 12 | 40263898 | missense variant | C/A;G | snv | 4.0E-06; 8.7E-02 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 4 | 882749 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
1 | 1.000 | 0.080 | 12 | 40309185 | synonymous variant | G/A | snv | 7.5E-02 | 5.9E-02 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.080 | 4 | 89724520 | 3 prime UTR variant | T/A | snv | 0.24 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 4 | 950422 | splice acceptor variant | A/C | snv | 7.0E-02 | 6.8E-02 | 0.010 | 1.000 | 1 | 2020 | 2020 |