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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
72 | 0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 | 0.030 | 1.000 | 3 | 2015 | 2018 | ||||
|
6 | 0.827 | 0.320 | 16 | 3249586 | missense variant | G/A;T | snv | 1.5E-02; 4.0E-05 | 0.020 | 1.000 | 2 | 2013 | 2018 | ||||
|
48 | 0.597 | 0.840 | 19 | 41352971 | missense variant | C/G;T | snv | 5.6E-02 | 0.020 | 0.500 | 2 | 2015 | 2020 | ||||
|
43 | 0.611 | 0.720 | 16 | 3254626 | missense variant | C/G;T | snv | 7.1E-02 | 0.020 | 1.000 | 2 | 2011 | 2018 | ||||
|
21 | 0.672 | 0.320 | 6 | 52190541 | 3 prime UTR variant | C/T | snv | 6.2E-02 | 0.020 | 1.000 | 2 | 2013 | 2019 | ||||
|
16 | 0.708 | 0.360 | 6 | 52185555 | upstream gene variant | A/G | snv | 0.64 | 0.020 | 1.000 | 2 | 2013 | 2019 | ||||
|
15 | 0.724 | 0.400 | 3 | 122119472 | missense variant | G/A | snv | 0.30 | 0.25 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
13 | 0.732 | 0.360 | 1 | 169707345 | missense variant | A/G | snv | 0.21 | 0.22 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
2 | 0.925 | 0.080 | 16 | 3249468 | missense variant | C/A;T | snv | 1.6E-05; 1.3E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 1 | 247425505 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
12 | 0.763 | 0.280 | 2 | 8812465 | missense variant | G/C | snv | 4.2E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
41 | 0.637 | 0.680 | 1 | 169732649 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
11 | 0.763 | 0.360 | 3 | 122120794 | 3 prime UTR variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
119 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 0.010 | < 0.001 | 1 | 2020 | 2020 | ||||
|
4 | 0.851 | 0.120 | 11 | 112164784 | intron variant | A/C | snv | 0.60 | 0.010 | < 0.001 | 1 | 2020 | 2020 | ||||
|
15 | 0.724 | 0.440 | 16 | 3254463 | missense variant | C/T | snv | 0.24 | 0.21 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 0.925 | 0.080 | 16 | 3254654 | synonymous variant | T/A;C | snv | 1.7E-04; 0.44 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
61 | 0.570 | 0.760 | 5 | 132673462 | upstream gene variant | C/T | snv | 0.35 | 0.010 | < 0.001 | 1 | 2020 | 2020 | ||||
|
115 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
17 | 0.742 | 0.560 | 16 | 3243447 | missense variant | C/A;G;T | snv | 1.0E-04; 8.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
65 | 0.566 | 0.840 | 5 | 159315942 | 3 prime UTR variant | T/G | snv | 0.26 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
17 | 0.701 | 0.560 | 6 | 52185988 | upstream gene variant | A/G | snv | 0.34 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
11 | 0.752 | 0.480 | 6 | 52186476 | intron variant | G/A | snv | 0.13 | 8.5E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 |