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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.020 | 0.500 | 2 | 2007 | 2008 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
230 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.060 | 1.000 | 6 | 1998 | 2012 | |||
|
201 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.050 | 1.000 | 5 | 1999 | 2012 | |||
|
131 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
98 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 0.020 | 1.000 | 2 | 2018 | 2018 | ||||
|
80 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 0.800 | 1.000 | 28 | 2010 | 2019 | |||
|
80 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
75 | 0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
39 | 0.620 | 0.440 | 5 | 147828115 | missense variant | T/C | snv | 9.1E-03 | 8.2E-03 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
38 | 0.630 | 0.440 | 19 | 19268740 | missense variant | C/T | snv | 6.5E-02 | 5.8E-02 | 0.050 | 1.000 | 5 | 2015 | 2017 | |||
|
32 | 0.637 | 0.520 | 11 | 14893332 | upstream gene variant | A/G | snv | 0.65 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
34 | 0.641 | 0.640 | 22 | 46218377 | missense variant | C/G | snv | 4.3E-02 | 4.2E-02 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
21 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 0.020 | 1.000 | 2 | 2013 | 2014 | |||
|
33 | 0.658 | 0.480 | 6 | 32184610 | upstream gene variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
27 | 0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
28 | 0.667 | 0.440 | 4 | 23814039 | missense variant | C/T | snv | 0.31 | 0.26 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
22 | 0.689 | 0.320 | 19 | 54173068 | missense variant | T/A;C;G | snv | 0.020 | 1.000 | 2 | 2018 | 2019 | |||||
|
18 | 0.716 | 0.560 | 16 | 53782363 | intron variant | C/A | snv | 0.40 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
14 | 0.742 | 0.320 | 4 | 87310240 | splice donor variant | -/A | delins | 0.22 | 0.020 | 1.000 | 2 | 2019 | 2020 | ||||
|
10 | 0.776 | 0.200 | 11 | 114262697 | intron variant | C/T | snv | 0.21 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.790 | 0.160 | 22 | 43937814 | intron variant | T/G | snv | 0.20 | 0.710 | 1.000 | 1 | 2013 | 2014 | ||||
|
7 | 0.807 | 0.120 | 7 | 22720869 | intron variant | T/C | snv | 0.21 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
8 | 0.807 | 0.160 | 1 | 32862564 | 3 prime UTR variant | G/A | snv | 0.56 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.827 | 0.200 | 6 | 26094139 | intron variant | G/A;T | snv | 0.52; 8.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 |