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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.925 | 0.080 | 6 | 104416939 | intergenic variant | G/A | snv | 0.65 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
116 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
16 | 0.752 | 0.280 | 12 | 121184393 | missense variant | A/G | snv | 0.13 | 0.12 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 11 | 13280374 | intron variant | G/C | snv | 0.62 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
6 | 0.925 | 0.080 | 11 | 13297040 | intron variant | C/T | snv | 0.27 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
7 | 0.925 | 0.080 | 11 | 13324747 | intron variant | T/C | snv | 0.62 | 0.020 | 1.000 | 2 | 2014 | 2016 | ||||
|
4 | 11 | 13328584 | intron variant | A/G | snv | 0.57 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
6 | 0.925 | 0.080 | 11 | 13363769 | intron variant | A/G | snv | 0.53 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
6 | 0.925 | 0.080 | 11 | 13369313 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 1.000 | 0.040 | 11 | 13374619 | intron variant | T/C | snv | 0.40 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
43 | 0.658 | 0.640 | 1 | 152313385 | stop gained | G/A;T | snv | 9.4E-03; 8.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
14 | 0.790 | 0.160 | X | 154030948 | stop gained | G/A;C | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
46 | 0.716 | 0.320 | X | 154031355 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
11 | 0.827 | 0.240 | 1 | 183220922 | stop gained | G/A;T | snv | 8.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
10 | 0.827 | 0.120 | 11 | 2169802 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
5 | 1.000 | 0.080 | 7 | 22721094 | intron variant | A/T | snv | 0.21 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
169 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
4 | 0.925 | 0.080 | 13 | 33050369 | intron variant | C/T | snv | 0.26 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.925 | 0.080 | 13 | 33067879 | downstream gene variant | C/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.925 | 0.080 | 3 | 38555664 | missense variant | G/A | snv | 5.6E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
78 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
9 | 0.851 | 0.120 | 22 | 41381096 | intron variant | G/T | snv | 0.76 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
25 | 0.695 | 0.320 | 20 | 4699818 | missense variant | G/A | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2010 | 2015 | ||||
|
28 | 0.695 | 0.280 | 4 | 55435202 | 3 prime UTR variant | A/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 4 | 55440643 | intron variant | A/C | snv | 0.33 | 0.010 | 1.000 | 1 | 2016 | 2016 |