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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
22 | 0.724 | 0.240 | 1 | 159205564 | missense variant | G/A | snv | 0.51 | 0.66 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
6 | 0.882 | 0.120 | 3 | 42865620 | missense variant | A/C;T | snv | 0.43; 8.3E-03 | 0.700 | 1.000 | 3 | 2013 | 2018 | ||||
|
2 | 6 | 31795067 | missense variant | G/T | snv | 0.43 | 0.36 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 1 | 205798757 | synonymous variant | G/A | snv | 0.30 | 0.29 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 2 | 168864871 | synonymous variant | A/G | snv | 4.0E-06; 0.27 | 0.25 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
48 | 0.620 | 0.720 | 3 | 39265671 | missense variant | G/A | snv | 0.14 | 0.12 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 6 | 33080829 | missense variant | G/C | snv | 0.14 | 0.15 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
68 | 0.572 | 0.680 | 3 | 46357717 | missense variant | G/A | snv | 0.13 | 0.12 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 19 | 42248882 | synonymous variant | A/G | snv | 9.7E-02 | 8.9E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
8 | 1.000 | 0.080 | 3 | 42864624 | missense variant | T/C | snv | 5.1E-02 | 4.7E-02 | 0.700 | 1.000 | 2 | 2013 | 2016 | |||
|
9 | 0.827 | 0.320 | 12 | 69350234 | missense variant | C/A | snv | 4.2E-02 | 4.3E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
5 | 5 | 151187456 | missense variant | A/G | snv | 3.7E-02 | 4.6E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 13 | 27968824 | synonymous variant | C/G | snv | 2.9E-02 | 2.2E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
8 | 1 | 159205704 | missense variant | C/T | snv | 1.1E-02 | 9.9E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
7 | 11 | 118210555 | missense variant | C/T | snv | 4.0E-03 | 3.5E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
15 | 0.763 | 0.240 | 17 | 16948873 | missense variant | A/G | snv | 3.5E-03 | 3.9E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
35 | 0.724 | 0.240 | 11 | 5227002 | missense variant | T/A;C;G | snv | 3.5E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 22 | 17105867 | missense variant | T/C | snv | 1.7E-03 | 2.3E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 9 | 111153625 | intron variant | T/C | snv | 0.21 | 0.700 | 1.000 | 3 | 2011 | 2017 | ||||||
|
5 | 1.000 | 0.080 | 2 | 181454574 | upstream gene variant | C/T | snv | 0.56 | 0.700 | 1.000 | 3 | 2011 | 2018 | ||||
|
2 | 2 | 181463487 | intron variant | G/A | snv | 0.55 | 0.700 | 1.000 | 3 | 2013 | 2017 | ||||||
|
5 | 1.000 | 0.040 | 3 | 128578726 | upstream gene variant | G/A;C | snv | 0.31 | 0.700 | 1.000 | 3 | 2011 | 2017 | ||||
|
3 | 9 | 111150273 | intron variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2016 | 2018 | |||||||
|
2 | 13 | 40428504 | intron variant | T/A;C | snv | 0.700 | 1.000 | 2 | 2016 | 2018 | |||||||
|
3 | 8 | 129611859 | intron variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2014 | 2017 |