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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.080 | 13 | 93033713 | intron variant | T/C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.080 | 12 | 66254548 | 3 prime UTR variant | A/T | snv | 0.22 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.807 | 0.200 | 14 | 55008684 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 0.925 | 0.120 | 4 | 38774173 | missense variant | A/G | snv | 2.7E-02; 4.0E-06 | 2.4E-02 | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
3 | 0.925 | 0.120 | 1 | 154459944 | intron variant | T/C | snv | 0.22 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 1 | 154457616 | intron variant | C/T | snv | 0.22 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
57 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
27 | 0.662 | 0.440 | 6 | 137874929 | missense variant | T/C;G | snv | 4.0E-06; 5.4E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.200 | 19 | 10379726 | 5 prime UTR variant | A/G | snv | 0.20 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.120 | 19 | 10366530 | synonymous variant | G/A;C | snv | 7.2E-02; 4.0E-06 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.240 | 19 | 10365084 | intron variant | G/A | snv | 0.21 | 0.16 | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||
|
13 | 0.732 | 0.360 | 19 | 10364976 | missense variant | C/A | snv | 0.27 | 0.23 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
10 | 0.752 | 0.320 | 19 | 10362257 | splice region variant | A/C;G | snv | 0.50 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
12 | 0.752 | 0.360 | 19 | 10359299 | missense variant | A/C;G | snv | 6.1E-02; 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.120 | 19 | 10355156 | intron variant | G/A | snv | 9.3E-02 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
8 | 0.807 | 0.160 | 8 | 10292057 | intron variant | A/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2012 | 2012 |