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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 0.742 | 0.280 | 19 | 39248514 | frameshift variant | TT/G;T | delins | 0.100 | 1.000 | 18 | 2014 | 2019 | |||||
|
19 | 0.701 | 0.520 | 1 | 23875429 | missense variant | TT/CC | mnv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
60 | 0.581 | 0.600 | 19 | 39252525 | upstream gene variant | T/G | snv | 0.16 | 0.100 | 0.965 | 113 | 2010 | 2019 | ||||
|
119 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 0.030 | 1.000 | 3 | 2013 | 2018 | ||||
|
5 | 0.827 | 0.160 | 22 | 31869917 | intron variant | T/G | snv | 0.37 | 0.020 | 1.000 | 2 | 2014 | 2016 | ||||
|
46 | 0.602 | 0.760 | 11 | 112164735 | intron variant | T/G | snv | 0.60 | 0.020 | 1.000 | 2 | 2009 | 2019 | ||||
|
14 | 0.742 | 0.360 | 9 | 117711921 | intron variant | T/G | snv | 0.54 | 0.020 | 1.000 | 2 | 2015 | 2019 | ||||
|
65 | 0.566 | 0.840 | 5 | 159315942 | 3 prime UTR variant | T/G | snv | 0.26 | 0.020 | 1.000 | 2 | 2013 | 2017 | ||||
|
59 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 0.020 | 1.000 | 2 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 2 | 55025078 | splice region variant | T/G | snv | 0.11 | 0.14 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
34 | 0.637 | 0.400 | 8 | 23200707 | missense variant | T/G | snv | 0.15 | 0.14 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
38 | 0.645 | 0.480 | 4 | 71742666 | intron variant | T/G | snv | 0.21 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
48 | 0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 3 | 195870036 | 3 prime UTR variant | T/C;G | snv | 0.44; 2.7E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 8 | 133603893 | intergenic variant | T/C;G | snv | 5.2E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.882 | 0.120 | 19 | 39244466 | missense variant | T/C | snv | 0.29 | 0.40 | 0.050 | 1.000 | 5 | 2011 | 2015 | |||
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.040 | 1.000 | 4 | 2013 | 2018 | ||||
|
37 | 0.623 | 0.600 | 16 | 28507775 | intron variant | T/C | snv | 0.43 | 0.030 | 1.000 | 3 | 2014 | 2019 | ||||
|
25 | 0.672 | 0.520 | X | 47585586 | synonymous variant | T/C | snv | 0.46 | 0.46 | 0.020 | 1.000 | 2 | 2013 | 2019 | |||
|
3 | 0.882 | 0.120 | 6 | 162721570 | intron variant | T/C | snv | 0.17 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
8 | 0.776 | 0.200 | 2 | 218136011 | 3 prime UTR variant | T/C | snv | 0.62 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.120 | 11 | 65662465 | 5 prime UTR variant | T/C | snv | 0.52 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.120 | 5 | 157095577 | intron variant | T/C | snv | 0.13 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.120 | 22 | 21351147 | upstream gene variant | T/C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.120 | 2 | 190145376 | intron variant | T/C | snv | 5.3E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 |