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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
48 | 0.637 | 0.440 | 1 | 46405089 | missense variant | C/A | snv | 0.24 | 0.26 | 0.030 | 1.000 | 3 | 2015 | 2016 | |||
|
12 | 0.763 | 0.240 | 1 | 115286692 | missense variant | G/A | snv | 0.37 | 0.36 | 0.020 | 0.500 | 2 | 2008 | 2012 | |||
|
3 | 0.925 | 0.080 | 1 | 192794818 | intron variant | G/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 1 | 15418527 | intron variant | A/C;G;T | snv | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||
|
1 | 1 | 17967858 | intergenic variant | G/A | snv | 0.70 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
5 | 0.882 | 0.080 | 1 | 7827519 | missense variant | C/G | snv | 8.7E-02 | 7.3E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
4 | 0.882 | 0.080 | 1 | 208073865 | intron variant | A/G | snv | 0.85 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
16 | 0.752 | 0.120 | 1 | 192812042 | 3 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1 | 204105737 | intron variant | C/T | snv | 0.51 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
7 | 0.882 | 0.080 | 1 | 7829913 | splice acceptor variant | GCTCTGTCCACAGGATCGCCTCCCATGAAGAATCCATCCCATCCTACTGCCAGC/-;GCTCTGTCCACAGGATCGCCTCCCATGAAGAATCCATCCCATCCTACTGCCAGCGCTCTGTCCACAGGATCGCCTCCCATGAAGAATCCATCCCATCCTACTGCCAGC | delins | 0.11 | 0.18 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 0.925 | 0.040 | 1 | 65941669 | intron variant | G/A | snv | 0.42 | 0.710 | 1.000 | 1 | 2019 | 2019 | ||||
|
52 | 0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 2 | 232784580 | intron variant | T/C | snv | 0.14 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1.000 | 0.040 | 2 | 119372265 | missense variant | A/C;G | snv | 4.0E-06; 2.5E-02 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 1.000 | 0.080 | 3 | 101980310 | intron variant | C/T | snv | 0.55 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||
|
23 | 0.701 | 0.200 | 3 | 8760542 | intron variant | G/A | snv | 0.16 | 0.020 | 1.000 | 2 | 2011 | 2012 | ||||
|
42 | 0.641 | 0.320 | 3 | 8762685 | intron variant | A/G;T | snv | 0.020 | 1.000 | 2 | 2016 | 2017 | |||||
|
7 | 0.827 | 0.080 | 3 | 8770725 | intron variant | T/C | snv | 0.41 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
57 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 3 | 13752941 | intergenic variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
59 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.030 | 1.000 | 3 | 2013 | 2020 | |||||
|
3 | 1.000 | 0.040 | 4 | 46085716 | intron variant | A/C | snv | 0.14 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
25 | 0.695 | 0.520 | 4 | 55106807 | missense variant | T/A | snv | 0.22 | 0.20 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
26 | 0.667 | 0.680 | 4 | 55126199 | upstream gene variant | A/G | snv | 0.53 | 0.010 | 1.000 | 1 | 2019 | 2019 |