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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.080 | 5 | 147828020 | splice donor variant | A/G;T | snv | 3.1E-04 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 1 | 15445655 | frameshift variant | CATCG/- | delins | 0.700 | 0 | ||||||||
|
40 | 0.620 | 0.440 | 5 | 147828115 | missense variant | T/C | snv | 9.1E-03 | 8.2E-03 | 0.100 | 0.967 | 30 | 2001 | 2017 | |||
|
24 | 0.677 | 0.280 | 7 | 142750639 | missense variant | A/G | snv | 7.0E-06 | 0.100 | 1.000 | 10 | 2001 | 2012 | ||||
|
11 | 0.742 | 0.120 | 7 | 142751938 | missense variant | G/A | snv | 1.2E-05 | 0.060 | 1.000 | 6 | 2001 | 2017 | ||||
|
11 | 0.742 | 0.120 | 7 | 142751938 | missense variant | GC/AT | mnv | 0.060 | 1.000 | 6 | 2001 | 2017 | |||||
|
9 | 0.776 | 0.280 | 7 | 142749077 | upstream gene variant | T/A;C | snv | 0.040 | 0.750 | 4 | 2015 | 2020 | |||||
|
5 | 0.827 | 0.200 | X | 107001537 | upstream gene variant | C/T | snv | 0.19 | 0.040 | 0.750 | 4 | 2015 | 2020 | ||||
|
19 | 0.701 | 0.240 | 12 | 52904798 | missense variant | C/A | snv | 4.9E-03 | 5.4E-03 | 0.020 | 1.000 | 2 | 2003 | 2006 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2008 | 2012 | |||
|
5 | 0.851 | 0.080 | 1 | 15445717 | missense variant | C/T | snv | 4.4E-03 | 3.8E-03 | 0.020 | 1.000 | 2 | 2010 | 2017 | |||
|
2 | 0.925 | 0.040 | 1 | 15440540 | synonymous variant | C/A;T | snv | 3.7E-03; 9.1E-02 | 0.020 | 1.000 | 2 | 2013 | 2017 | ||||
|
8 | 0.790 | 0.160 | 7 | 142774035 | missense variant | G/A | snv | 1.4E-02 | 0.020 | 1.000 | 2 | 2006 | 2009 | ||||
|
5 | 0.827 | 0.080 | X | 106901299 | intron variant | T/C | snv | 0.41 | 0.020 | 1.000 | 2 | 2015 | 2015 | ||||
|
8 | 0.790 | 0.160 | 7 | 142773993 | stop gained | G/A;T | snv | 0.020 | 1.000 | 2 | 2006 | 2009 | |||||
|
10 | 0.763 | 0.120 | 16 | 84845883 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2002 | 2010 | |||
|
23 | 0.672 | 0.360 | 3 | 122284922 | missense variant | A/G | snv | 0.15 | 9.0E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
11 | 0.742 | 0.280 | 7 | 142750600 | missense variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
8 | 0.776 | 0.320 | 5 | 147828053 | missense variant | G/A;C | snv | 4.5E-03 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
5 | 0.882 | 0.160 | 7 | 117664780 | missense variant | G/C;T | snv | 1.0E-03; 6.0E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
15 | 0.763 | 0.280 | 11 | 102530930 | upstream gene variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 0.851 | 0.120 | 8 | 19955863 | missense variant | C/G;T | snv | 1.5E-04 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
1 | 1.000 | 0.040 | 8 | 118753955 | intron variant | C/T | snv | 7.4E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.080 | X | 106917472 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
144 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 |