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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.851 | 0.160 | 11 | 113412755 | synonymous variant | A/G | snv | 0.64 | 0.58 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
8 | 0.851 | 0.200 | 6 | 154091047 | missense variant | G/A | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 0.851 | 0.200 | 12 | 121162449 | missense variant | GT/AC | mnv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
12 | 0.851 | 0.240 | 9 | 134701287 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
22 | 0.851 | 0.160 | 19 | 46746071 | 5 prime UTR variant | G/A | snv | 0.700 | 0 | ||||||||
|
22 | 0.851 | 0.120 | 12 | 21452130 | missense variant | A/G | snv | 4.7E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
10 | 0.827 | 0.240 | 22 | 19962429 | 5 prime UTR variant | A/G | snv | 0.38 | 0.030 | 1.000 | 3 | 2014 | 2019 | ||||
|
8 | 0.827 | 0.240 | 17 | 3589906 | missense variant | C/A;G;T | snv | 0.72; 4.5E-06 | 0.020 | 1.000 | 2 | 2017 | 2019 | ||||
|
9 | 0.827 | 0.200 | 22 | 19962740 | missense variant | G/A;T | snv | 4.8E-05; 1.4E-02 | 0.020 | 1.000 | 2 | 2014 | 2017 | ||||
|
7 | 0.827 | 0.120 | 1 | 46408711 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
8 | 0.827 | 0.160 | 17 | 30197786 | 3 prime UTR variant | A/C | snv | 0.40 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
8 | 0.827 | 0.240 | 4 | 69112695 | missense variant | T/C | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
11 | 0.807 | 0.120 | 22 | 19965038 | 3 prime UTR variant | G/A | snv | 0.27 | 0.040 | 1.000 | 4 | 2013 | 2018 | ||||
|
11 | 0.807 | 0.080 | 1 | 11801287 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
7 | 0.807 | 0.320 | 6 | 31576050 | intron variant | G/A | snv | 8.4E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
9 | 0.807 | 0.200 | X | 154031326 | stop gained | G/A;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
8 | 0.807 | 0.320 | 11 | 113410675 | 3 prime UTR variant | C/T | snv | 0.54 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
9 | 0.790 | 0.160 | 1 | 186679065 | synonymous variant | C/G;T | snv | 0.12; 8.0E-06 | 0.020 | 1.000 | 2 | 2012 | 2015 | ||||
|
9 | 0.790 | 0.320 | 12 | 121162450 | missense variant | T/A;C;G | snv | 0.51 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
9 | 0.790 | 0.200 | 17 | 63945614 | missense variant | C/A;T | snv | 1.6E-05; 5.6E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
10 | 0.776 | 0.320 | 7 | 140753332 | missense variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
9 | 0.776 | 0.200 | 11 | 122152479 | intron variant | A/G | snv | 0.49 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
16 | 0.763 | 0.320 | 2 | 166242648 | missense variant | A/G | snv | 0.88 | 0.88 | 0.040 | 1.000 | 4 | 2010 | 2018 | |||
|
14 | 0.763 | 0.320 | 17 | 30197993 | 3 prime UTR variant | A/C | snv | 0.40 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
13 | 0.763 | 0.200 | 2 | 101994530 | intron variant | T/C | snv | 0.22 | 0.010 | 1.000 | 1 | 2014 | 2014 |