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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.851 | 0.160 | 1 | 186671485 | downstream gene variant | C/T | snv | 0.27 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.925 | 0.080 | 1 | 231942868 | intron variant | T/C | snv | 0.19 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
7 | 0.882 | 0.080 | 1 | 7829913 | splice acceptor variant | GCTCTGTCCACAGGATCGCCTCCCATGAAGAATCCATCCCATCCTACTGCCAGC/-;GCTCTGTCCACAGGATCGCCTCCCATGAAGAATCCATCCCATCCTACTGCCAGCGCTCTGTCCACAGGATCGCCTCCCATGAAGAATCCATCCCATCCTACTGCCAGC | delins | 0.11 | 0.18 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
8 | 0.790 | 0.400 | 1 | 35897874 | intron variant | G/A | snv | 0.23 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.080 | 1 | 162182266 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
92 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 0.020 | 1.000 | 2 | 2016 | 2019 | ||||
|
6 | 0.827 | 0.160 | 2 | 107992192 | missense variant | A/G | snv | 9.3E-02 | 7.4E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
5 | 0.851 | 0.080 | 2 | 207562074 | intron variant | T/G | snv | 0.30 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.925 | 0.080 | 2 | 25161334 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
43 | 0.620 | 0.720 | 2 | 112785383 | upstream gene variant | G/A;C | snv | 0.32 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.851 | 0.080 | 2 | 207527254 | intron variant | A/G | snv | 0.47 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 0.851 | 0.120 | 2 | 66554321 | intron variant | T/G | snv | 0.21 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.882 | 0.160 | 2 | 211592470 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
42 | 0.641 | 0.320 | 3 | 8762685 | intron variant | A/G;T | snv | 0.090 | 0.889 | 9 | 2014 | 2019 | |||||
|
20 | 0.701 | 0.320 | 3 | 120094435 | upstream gene variant | A/G | snv | 0.51 | 0.020 | 1.000 | 2 | 2012 | 2018 | ||||
|
5 | 0.851 | 0.080 | 3 | 120049399 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.925 | 0.080 | 3 | 8773124 | intron variant | T/G | snv | 0.13 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
6 | 0.882 | 0.080 | 3 | 89399325 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
52 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
3 | 0.925 | 0.080 | 3 | 7294765 | intron variant | A/C | snv | 0.38 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
23 | 0.701 | 0.200 | 3 | 8760542 | intron variant | G/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
7 | 0.827 | 0.080 | 3 | 8770725 | intron variant | T/C | snv | 0.41 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.851 | 0.080 | 3 | 180909515 | intron variant | G/A | snv | 0.24 | 0.010 | 1.000 | 1 | 2017 | 2017 |