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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
56 | 0.583 | 0.680 | 4 | 88131171 | missense variant | G/C;T | snv | 4.0E-06; 0.12 | 0.800 | 1.000 | 14 | 2008 | 2019 | ||||
|
5 | 0.882 | 0.200 | 4 | 88133515 | intron variant | A/G | snv | 8.7E-02 | 0.800 | 1.000 | 4 | 2009 | 2019 | ||||
|
6 | 0.882 | 0.200 | 4 | 88117930 | intron variant | A/G | snv | 8.9E-02 | 0.800 | 1.000 | 3 | 2009 | 2019 | ||||
|
4 | 0.882 | 0.160 | 4 | 88107623 | intron variant | A/G | snv | 7.8E-02 | 0.800 | 1.000 | 3 | 2009 | 2019 | ||||
|
4 | 0.882 | 0.160 | 4 | 88143429 | intron variant | A/C | snv | 0.48 | 0.800 | 1.000 | 3 | 2009 | 2018 | ||||
|
4 | 0.882 | 0.160 | 4 | 88169725 | intron variant | T/C;G | snv | 0.800 | 1.000 | 2 | 2009 | 2015 | |||||
|
5 | 0.882 | 0.160 | 4 | 88124179 | intron variant | A/G;T | snv | 0.88 | 0.700 | 1.000 | 4 | 2010 | 2019 | ||||
|
3 | 0.925 | 0.120 | 4 | 88172856 | intron variant | C/T | snv | 0.58 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.120 | 4 | 88109689 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
4 | 0.882 | 0.160 | 4 | 88176325 | intron variant | C/T | snv | 0.59 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.120 | 4 | 88147303 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 1.000 | 0.040 | 4 | 88094576 | splice donor variant | C/A;T | snv | 5.2E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.120 | 4 | 88099275 | intron variant | C/A | snv | 0.10 | 7.8E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | |||
|
3 | 0.925 | 0.120 | 4 | 88158234 | intron variant | T/A;C | snv | 0.40 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.120 | 4 | 88165592 | intron variant | A/G;T | snv | 0.39 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.851 | 0.240 | 4 | 88109768 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
3 | 0.925 | 0.120 | 4 | 88148254 | intron variant | T/C | snv | 0.41 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.120 | 4 | 88145563 | intron variant | C/A | snv | 0.47 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.882 | 0.160 | 4 | 88172912 | intron variant | T/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.120 | 4 | 88170035 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.882 | 0.200 | 4 | 88162514 | intron variant | T/C | snv | 0.40 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.040 | 4 | 88139757 | intron variant | T/C | snv | 0.11 | 7.1E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||
|
3 | 0.925 | 0.120 | 4 | 88099782 | intron variant | G/A | snv | 7.8E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.120 | 4 | 88102072 | intron variant | G/A | snv | 8.0E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 4 | 88174538 | intron variant | G/A | snv | 0.21 | 0.700 | 1.000 | 1 | 2018 | 2018 |