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 | 0.160 | 12 | 40208138 | non coding transcript exon variant | C/T | snv | 2.8E-02 | 0.820 | 1.000 | 3 | 2008 | 2013 | ||||
|
2 | 1.000 | 0.040 | 12 | 40346421 | intron variant | T/C | snv | 3.0E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
14 | 0.724 | 0.240 | 12 | 40366829 | non coding transcript exon variant | A/G | snv | 1.7E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 12 | 40362670 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.827 | 0.120 | 12 | 40350592 | intron variant | G/T | snv | 0.77 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 12 | 40364850 | missense variant | T/C | snv | 0.62 | 0.62 | 0.020 | 1.000 | 2 | 2013 | 2016 | |||
|
1 | 1.000 | 0.040 | 12 | 40346884 | missense variant | A/G;T | snv | 1.8E-02; 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
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 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.790 | 0.120 | 12 | 40263898 | missense variant | C/A;G | snv | 4.0E-06; 8.7E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 |