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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
16 | 0.752 | 0.280 | 12 | 121184393 | missense variant | A/G | snv | 0.13 | 0.12 | 0.070 | 1.000 | 7 | 2008 | 2019 | |||
|
40 | 0.645 | 0.200 | 5 | 63962738 | intron variant | C/G | snv | 0.49 | 0.070 | 1.000 | 7 | 2008 | 2019 | ||||
|
23 | 0.716 | 0.280 | 11 | 27658285 | missense variant | C/A;T | snv | 4.0E-06 | 1.4E-05 | 0.020 | 1.000 | 2 | 2008 | 2013 | |||
|
6 | 0.827 | 0.160 | 2 | 107992192 | missense variant | A/G | snv | 9.3E-02 | 7.4E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
19 | 0.708 | 0.240 | 11 | 113932306 | missense variant | A/C | snv | 0.33 | 0.36 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
9 | 0.776 | 0.080 | 16 | 55656513 | 5 prime UTR variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
6 | 0.827 | 0.080 | 16 | 55652906 | upstream gene variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
4 | 0.925 | 0.080 | 12 | 20711408 | missense variant | C/A;T | snv | 3.4E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
14 | 0.752 | 0.240 | 22 | 19968597 | missense variant | C/T | snv | 2.4E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
46 | 0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 | 0.040 | 1.000 | 4 | 2009 | 2018 | ||||
|
78 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 0.030 | 1.000 | 3 | 2009 | 2018 | |||
|
27 | 0.672 | 0.520 | 1 | 159713301 | 3 prime UTR variant | G/A | snv | 0.26 | 0.020 | 0.500 | 2 | 2009 | 2015 | ||||
|
5 | 0.882 | 0.080 | 9 | 84668501 | upstream gene variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 2009 | 2015 | |||||
|
36 | 0.658 | 0.560 | 7 | 24285260 | missense variant | T/A;C | snv | 4.0E-06; 3.0E-02 | 0.020 | 1.000 | 2 | 2009 | 2013 | ||||
|
7 | 0.851 | 0.080 | 6 | 88137716 | downstream gene variant | T/C | snv | 0.51 | 0.020 | 1.000 | 2 | 2009 | 2019 | ||||
|
7 | 0.851 | 0.120 | 17 | 63477287 | missense variant | G/A | snv | 2.1E-05 | 0.020 | 1.000 | 2 | 2009 | 2013 | ||||
|
3 | 0.925 | 0.080 | 9 | 84674365 | intron variant | A/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.882 | 0.080 | 21 | 46602608 | 5 prime UTR variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
40 | 0.637 | 0.600 | 22 | 46198429 | missense variant | G/C;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.925 | 0.080 | 17 | 45807036 | synonymous variant | C/T | snv | 3.1E-02 | 3.0E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
8 | 0.827 | 0.200 | 5 | 63961061 | missense variant | C/A | snv | 3.7E-03 | 3.8E-03 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
10 | 0.776 | 0.160 | 17 | 30223796 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2009 | 2009 |