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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 0.724 | 0.320 | 5 | 83076846 | intron variant | G/A;T | snv | 0.020 | 1.000 | 2 | 2015 | 2015 | |||||
|
37 | 0.620 | 0.440 | 7 | 152648922 | missense variant | C/G;T | snv | 4.0E-06; 6.4E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
151 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 0.060 | 0.833 | 6 | 2006 | 2019 | |||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.040 | 1.000 | 4 | 2006 | 2016 | |||
|
78 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 0.030 | 1.000 | 3 | 2016 | 2019 | ||||
|
3 | 0.882 | 0.120 | 19 | 43545922 | missense variant | C/G | snv | 1.6E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
8 | 0.807 | 0.160 | 3 | 14178595 | 5 prime UTR variant | C/G | snv | 0.42 | 0.43 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.120 | 3 | 14178939 | intron variant | C/T | snv | 1.9E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.120 | 3 | 14148768 | intron variant | G/A;C;T | snv | 0.41; 1.5E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
53 | 0.585 | 0.560 | 3 | 14158387 | missense variant | G/A | snv | 0.24 | 0.21 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.120 | 3 | 14167125 | intron variant | G/C | snv | 0.31 | 0.34 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.120 | 3 | 14165122 | intron variant | C/G | snv | 1.8E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.120 | 16 | 79005703 | intron variant | C/T | snv | 0.22 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
78 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
99 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.882 | 0.120 | 12 | 47875627 | intron variant | A/C;G | snv | 0.17 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | 2 | 233682175 | missense variant | T/C;G | snv | 4.0E-06; 1.4E-04 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
3 | 0.925 | 0.120 | 8 | 125436547 | 3 prime UTR variant | G/A | snv | 0.25 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 8 | 125432546 | intron variant | G/A | snv | 0.30 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 10 | 17146475 | 3 prime UTR variant | C/T | snv | 0.95 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 1 | 3727199 | missense variant | A/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.120 | 1 | 3707693 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
57 | 0.614 | 0.320 | 17 | 7675151 | missense variant | C/A;T | snv | 8.0E-06 | 0.040 | 1.000 | 4 | 2004 | 2019 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.030 | 0.667 | 3 | 2010 | 2011 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.020 | 0.500 | 2 | 2011 | 2011 |