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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.040 | 1.000 | 4 | 2011 | 2018 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.030 | 1.000 | 3 | 2011 | 2016 | ||||
|
1 | 1.000 | 0.040 | 1 | 151989099 | intron variant | T/C | snv | 0.33 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 17 | 49510638 | synonymous variant | C/T | snv | 0.31 | 0.25 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
5 | 0.882 | 0.080 | 9 | 84668501 | upstream gene variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
8 | 0.851 | 0.120 | 9 | 84667612 | upstream gene variant | C/T | snv | 0.50 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | X | 114629635 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
7 | 0.827 | 0.120 | 11 | 27658550 | splice region variant | G/A | snv | 4.0E-06 | 2.1E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.040 | 10 | 69573087 | intron variant | TG/- | del | 0.23 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 1 | 204427600 | intron variant | A/C | snv | 0.11 | 0.15 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.040 | 9 | 84707625 | intron variant | T/C | snv | 0.50 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.827 | 0.200 | 11 | 27702228 | intron variant | T/A | snv | 0.48 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
11 | 0.776 | 0.160 | 17 | 49510457 | missense variant | C/T | snv | 5.2E-02 | 4.1E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.040 | X | 114655361 | intron variant | G/A | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 1 | 204429933 | synonymous variant | A/G | snv | 4.0E-06; 0.10 | 0.14 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.040 | 1 | 204429936 | synonymous variant | G/A;C | snv | 0.10; 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
72 | 0.581 | 0.520 | 17 | 30237328 | upstream gene variant | T/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 3 | 184038954 | synonymous variant | C/T | snv | 0.37 | 0.33 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
82 | 0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.040 | 11 | 27728902 | intron variant | C/T | snv | 8.2E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 9 | 84815606 | 3 prime UTR variant | T/A | snv | 0.75 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 11 | 27725444 | intron variant | T/C | snv | 0.48 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 8 | 42174861 | 3 prime UTR variant | T/C | snv | 0.10 | 0.010 | 1.000 | 1 | 2018 | 2018 |