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 | 8 | 127736252 | synonymous variant | C/T | snv | 2.8E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.120 | 9 | 117713471 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.925 | 0.120 | X | 75053456 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.925 | 0.080 | 16 | 173581 | missense variant | T/C;G | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.120 | X | 48792376 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
4 | 0.925 | 0.160 | 10 | 95038791 | intron variant | C/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.925 | 0.120 | 16 | 67940017 | missense variant | T/C | snv | 1.4E-05 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 1.000 | 0.040 | 22 | 22158022 | intron variant | G/A | snv | 0.61 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.882 | 0.200 | 12 | 101753399 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.160 | 1 | 155235003 | missense variant | G/A | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
5 | 0.827 | 0.160 | X | 154535277 | missense variant | T/A;C | snv | 1.7E-04; 2.6E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.827 | 0.080 | 12 | 50999214 | missense variant | C/A;T | snv | 6.0E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 1.000 | 0.040 | 6 | 27069301 | intergenic variant | C/T | snv | 4.8E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.882 | 0.120 | 16 | 67940230 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.882 | 0.160 | 17 | 42901026 | frameshift variant | GT/- | del | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.320 | X | 49251440 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.240 | 1 | 155239655 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.160 | 1 | 155236292 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.120 | X | 48792377 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
6 | 0.827 | 0.240 | 6 | 106214866 | intron variant | C/G | snv | 0.42 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.851 | 0.160 | 4 | 186076613 | splice region variant | C/A | snv | 0.18 | 0.18 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
6 | 0.827 | 0.120 | 11 | 112152125 | intron variant | A/G | snv | 0.16 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.807 | 0.200 | 3 | 9918386 | missense variant | C/T | snv | 0.46 | 0.51 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
7 | 0.807 | 0.160 | 17 | 40088306 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
7 | 0.807 | 0.120 | 19 | 12885001 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 |