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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.776 | 0.280 | 10 | 70600631 | missense variant | G/A | snv | 2.9E-02 | 2.9E-02 | 0.020 | 1.000 | 2 | 2005 | 2014 | |||
|
3 | 0.882 | 0.200 | 15 | 55224004 | stop gained | G/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 0.925 | 0.080 | X | 124365786 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
2 | 0.925 | 0.080 | X | 136659171 | missense variant | G/A;C | snv | 1.8E-03; 9.3E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.851 | 0.120 | 19 | 11513899 | missense variant | A/G | snv | 2.7E-03 | 9.4E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
26 | 0.662 | 0.520 | 7 | 128938247 | splice donor variant | T/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
10 | 0.752 | 0.440 | 7 | 128954671 | 3 prime UTR variant | C/T | snv | 0.64 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 19 | 7641770 | synonymous variant | C/T | snv | 7.5E-03 | 2.1E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
4 | 0.882 | 0.160 | 10 | 70598966 | missense variant | T/C | snv | 5.0E-03 | 7.5E-03 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
6 | 0.827 | 0.160 | 7 | 128928906 | intergenic variant | A/C | snv | 0.28 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 10 | 70599026 | missense variant | C/A;T | snv | 6.4E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
5 | 0.851 | 0.120 | 8 | 90020913 | missense variant | T/C | snv | 4.9E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.120 | 10 | 89215938 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 |