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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 0.716 | 0.400 | 11 | 102865911 | missense variant | T/C;G | snv | 7.1E-02; 2.5E-04 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
18 | 0.701 | 0.440 | 11 | 102875061 | upstream gene variant | T/C | snv | 9.2E-02 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
11 | 0.763 | 0.240 | 14 | 104772855 | intron variant | T/C | snv | 0.50 | 0.47 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 0.925 | 0.040 | 14 | 104773557 | synonymous variant | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
12 | 0.742 | 0.280 | 14 | 104793397 | 5 prime UTR variant | C/A | snv | 0.31 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 8 | 105503826 | intron variant | C/G | snv | 0.37 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
5 | 0.827 | 0.120 | 1 | 11022209 | missense variant | A/G | snv | 7.6E-05 | 4.9E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
116 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
57 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 0.925 | 0.040 | X | 121049176 | missense variant | T/G | snv | 2.7E-02 | 3.2E-02 | 0.700 | 0 | ||||||
|
1 | 1.000 | 3 | 132467269 | missense variant | G/T | snv | 2.0E-05 | 4.2E-05 | 0.700 | 1.000 | 2 | 2014 | 2015 | ||||
|
6 | 0.827 | 0.080 | 3 | 132477995 | missense variant | A/G | snv | 4.2E-06 | 3.5E-05 | 0.800 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 3 | 132492587 | missense variant | G/A;T | snv | 1.6E-05 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 3 | 132522838 | missense variant | C/A;T | snv | 4.1E-06; 1.5E-03 | 0.700 | 1.000 | 2 | 2014 | 2015 | |||||
|
10 | 0.752 | 0.200 | 1 | 155235002 | missense variant | C/T | snv | 1.8E-04 | 6.1E-05 | 0.700 | 0 | ||||||
|
8 | 0.776 | 0.160 | 1 | 155235196 | missense variant | G/A;T | snv | 7.2E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
30 | 0.683 | 0.440 | 1 | 155235252 | missense variant | A/C;G | snv | 8.0E-06; 1.3E-03 | 0.700 | 0 | |||||||
|
1 | 1.000 | 1 | 155235256 | missense variant | C/T | snv | 5.2E-04 | 2.3E-03 | 0.700 | 0 | |||||||
|
13 | 0.732 | 0.360 | 1 | 155235727 | missense variant | C/G | snv | 1.3E-04 | 2.0E-04 | 0.700 | 0 | ||||||
|
8 | 0.776 | 0.160 | 1 | 155235772 | missense variant | C/A | snv | 3.2E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 1 | 155235775 | missense variant | A/T | snv | 0.700 | 0 | |||||||||
|
4 | 0.851 | 0.160 | 1 | 155235820 | missense variant | A/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
35 | 0.658 | 0.520 | 1 | 155235843 | missense variant | T/C;G | snv | 2.3E-03 | 0.700 | 0 |