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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.160 | X | 108696350 | missense variant | G/A;C;T | snv | 2.2E-05 | 0.010 | 1.000 | 1 | 1997 | 1997 | ||||
|
5 | 0.925 | 0.200 | X | 108667167 | synonymous variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 20 | 3857794 | stop gained | C/A;G;T | snv | 1.6E-05; 0.29; 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.160 | 20 | 3862337 | synonymous variant | C/T | snv | 9.2E-02 | 0.11 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
14 | 0.724 | 0.360 | 17 | 5582047 | missense variant | A/T | snv | 0.37 | 0.33 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
15 | 0.708 | 0.400 | 17 | 5615686 | intron variant | A/G | snv | 0.41 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
14 | 0.732 | 0.520 | 16 | 31265490 | missense variant | G/A | snv | 9.7E-02 | 0.11 | 0.020 | 1.000 | 2 | 2014 | 2018 | |||
|
7 | 0.851 | 0.240 | 16 | 3657746 | missense variant | G/A;T | snv | 0.36; 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
7 | 0.851 | 0.160 | 16 | 20389517 | intron variant | C/T | snv | 0.23 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
43 | 0.611 | 0.720 | 16 | 3254626 | missense variant | C/G;T | snv | 7.1E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.200 | 12 | 128814840 | synonymous variant | G/A | snv | 0.13 | 9.1E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
21 | 0.689 | 0.520 | 12 | 121177300 | missense variant | G/A;T | snv | 0.35; 4.0E-06 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
6 | 0.807 | 0.360 | 12 | 121177328 | missense variant | C/G | snv | 0.14 | 0.12 | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||
|
12 | 0.742 | 0.480 | 12 | 121184501 | missense variant | A/C;G | snv | 0.19; 4.0E-06 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
5 | 0.851 | 0.280 | 11 | 128441164 | intergenic variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 0.925 | 0.240 | 10 | 100809115 | synonymous variant | C/T | snv | 7.4E-02 | 0.13 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
11 | 0.742 | 0.480 | 10 | 67883584 | upstream gene variant | T/C | snv | 0.64 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 9 | 134881650 | intron variant | C/T | snv | 0.32 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
26 | 0.662 | 0.520 | 7 | 128938247 | splice donor variant | T/G | snv | 0.52 | 0.020 | 1.000 | 2 | 2015 | 2017 | ||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
8 | 0.807 | 0.360 | 7 | 50266267 | upstream gene variant | T/G | snv | 0.26 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
62 | 0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
77 | 0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
105 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 0.010 | 1.000 | 1 | 2016 | 2016 |