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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.882 | 0.080 | 12 | 47976052 | missense variant | C/T | snv | 7.0E-06 | 0.020 | 1.000 | 2 | 2010 | 2018 | ||||
|
15 | 0.851 | 0.240 | 2 | 21002409 | missense variant | C/T | snv | 0.70 | 0.78 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 0.925 | 0.080 | 12 | 47980616 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 1.000 | 0.040 | 12 | 47981829 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
97 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 1.000 | 0.080 | 22 | 41841765 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
5 | 0.882 | 0.120 | 22 | 41891450 | intron variant | A/G | snv | 0.67 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.882 | 0.040 | 20 | 46011053 | splice region variant | G/T | snv | 0.15 | 0.15 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 0.925 | 0.080 | 7 | 45913974 | intron variant | T/C | snv | 0.26 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
26 | 0.708 | 0.400 | 11 | 116791691 | missense variant | G/A;C | snv | 3.0E-05; 6.8E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
10 | 0.807 | 0.240 | 19 | 7668969 | upstream gene variant | G/A | snv | 5.0E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 19 | 7668689 | upstream gene variant | G/A | snv | 3.1E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 19 | 7670589 | downstream gene variant | G/C | snv | 0.46 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 11 | 116839523 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
33 | 0.689 | 0.480 | 11 | 116792991 | upstream gene variant | G/A | snv | 0.90 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
14 | 0.925 | 0.120 | 2 | 21014672 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
12 | 0.925 | 0.120 | 2 | 21008652 | missense variant | G/A;T | snv | 0.29 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.120 | 19 | 7668069 | upstream gene variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 |