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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.040 | 5 | 153488877 | upstream gene variant | T/C | snv | 0.62 | 0.020 | < 0.001 | 2 | 2015 | 2018 | ||||
|
27 | 0.695 | 0.120 | 12 | 2236129 | intron variant | G/A | snv | 0.36 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
43 | 0.641 | 0.600 | 15 | 78601997 | synonymous variant | G/A | snv | 0.27 | 0.26 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||
|
12 | 0.776 | 0.160 | 10 | 60420054 | intron variant | C/T | snv | 7.5E-02 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
1 | 13 | 35312538 | intron variant | A/G;T | snv | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||||||
|
2 | 1.000 | 0.040 | 6 | 89217243 | missense variant | T/C | snv | 0.27 | 0.22 | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||
|
11 | 0.807 | 0.120 | 11 | 27723312 | intron variant | T/C | snv | 0.16 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
11 | 0.776 | 0.240 | 14 | 64415662 | missense variant | A/G | snv | 0.83 | 0.83 | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||
|
2 | 17 | 30219896 | intron variant | C/T | snv | 0.34 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||
|
54 | 0.608 | 0.680 | 7 | 150992991 | intron variant | C/T | snv | 0.70 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
12 | 0.807 | 0.240 | 2 | 11218994 | missense variant | G/C;T | snv | 0.49 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
4 | 0.882 | 0.120 | 2 | 237858561 | upstream gene variant | A/C;T | snv | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||
|
2 | 1.000 | 0.040 | X | 123182584 | upstream gene variant | T/C | snv | 0.38 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
6 | 0.851 | 0.120 | 11 | 35308068 | intron variant | G/T | snv | 0.20 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
27 | 0.683 | 0.440 | 22 | 19963684 | synonymous variant | C/G;T | snv | 0.34 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
23 | 0.732 | 0.160 | 6 | 77462543 | synonymous variant | C/G | snv | 0.31 | 0.27 | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||
|
2 | 1.000 | 0.080 | 12 | 117346913 | intron variant | G/A | snv | 0.36 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
1 | 3 | 111936542 | intron variant | T/C | snv | 0.69 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||
|
2 | 1.000 | 0.080 | 12 | 117292535 | intron variant | G/A;T | snv | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||||
|
28 | 0.653 | 0.600 | 6 | 31576786 | synonymous variant | G/A | snv | 1.6E-05 | 1.4E-05 | 0.030 | 0.333 | 3 | 2010 | 2014 | |||
|
3 | 0.925 | 0.040 | 1 | 156476450 | intron variant | C/A | snv | 0.62 | 0.54 | 0.820 | 0.500 | 4 | 2012 | 2017 | |||
|
12 | 0.742 | 0.240 | 11 | 101062681 | missense variant | C/A;G | snv | 0.13; 4.0E-06 | 0.020 | 0.500 | 2 | 2010 | 2015 | ||||
|
11 | 0.790 | 0.160 | 11 | 113475529 | intron variant | -/G | delins | 0.020 | 0.500 | 2 | 2013 | 2015 | |||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.020 | 0.500 | 2 | 2007 | 2011 | ||||
|
52 | 0.614 | 0.640 | 14 | 64442127 | missense variant | G/A | snv | 0.44 | 0.38 | 0.020 | 0.500 | 2 | 2005 | 2014 |