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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 14 | 94689439 | regulatory region variant | T/A | snv | 0.37 | 0.020 | 1.000 | 2 | 2011 | 2017 | ||||
|
6 | 0.851 | 0.120 | 6 | 150885942 | intron variant | G/A;T | snv | 0.020 | 1.000 | 2 | 2010 | 2012 | |||||
|
2 | 0.925 | 0.080 | 4 | 95170280 | missense variant | G/A | snv | 2.9E-04 | 2.6E-04 | 0.020 | 1.000 | 2 | 2014 | 2016 | |||
|
2 | 0.925 | 0.080 | 19 | 40371688 | missense variant | G/A | snv | 3.1E-03 | 3.6E-03 | 0.020 | 1.000 | 2 | 2018 | 2019 | |||
|
2 | 0.925 | 0.080 | 14 | 73198145 | intron variant | G/A;T | snv | 0.61 | 0.020 | 1.000 | 2 | 2006 | 2008 | ||||
|
1 | 1.000 | 0.080 | 10 | 66920370 | intron variant | T/C | snv | 0.12 | 0.020 | 1.000 | 2 | 2012 | 2014 | ||||
|
10 | 0.790 | 0.120 | 5 | 168418786 | intron variant | C/T | snv | 0.43 | 0.020 | 0.500 | 2 | 2011 | 2017 | ||||
|
3 | 0.882 | 0.080 | 11 | 121618707 | intron variant | G/A | snv | 0.84 | 0.020 | 1.000 | 2 | 2015 | 2017 | ||||
|
1 | 1.000 | 0.080 | 10 | 66990654 | intron variant | A/C | snv | 0.49 | 0.020 | 0.500 | 2 | 2012 | 2014 | ||||
|
1 | 1.000 | 0.080 | 10 | 66995149 | intron variant | T/C | snv | 0.51 | 0.020 | 1.000 | 2 | 2012 | 2014 | ||||
|
3 | 0.882 | 0.120 | 10 | 58385582 | missense variant | G/C | snv | 9.6E-02 | 7.6E-02 | 0.020 | 1.000 | 2 | 2008 | 2011 | |||
|
4 | 0.851 | 0.080 | 11 | 121577381 | synonymous variant | T/G | snv | 0.32 | 0.23 | 0.020 | 1.000 | 2 | 2014 | 2015 | |||
|
45 | 0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 | 0.020 | 1.000 | 2 | 2013 | 2017 | |||
|
2 | 0.925 | 0.080 | 10 | 95595157 | non coding transcript exon variant | C/A;G;T | snv | 0.39 | 0.020 | 0.500 | 2 | 2006 | 2008 | ||||
|
35 | 0.649 | 0.400 | 16 | 56982180 | missense variant | G/A;C | snv | 0.62 | 0.020 | 0.500 | 2 | 2012 | 2015 | ||||
|
3 | 0.925 | 0.080 | 19 | 45205630 | intron variant | T/A;C;G | snv | 0.020 | 0.500 | 2 | 2011 | 2012 | |||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.020 | 1.000 | 2 | 2005 | 2014 | |||
|
10 | 0.827 | 0.120 | 19 | 44878777 | 3 prime UTR variant | A/G | snv | 0.58 | 0.020 | 1.000 | 2 | 2011 | 2017 | ||||
|
2 | 0.925 | 0.080 | 11 | 121500411 | intron variant | G/A | snv | 0.40 | 0.020 | 0.500 | 2 | 2015 | 2017 | ||||
|
2 | 0.925 | 0.080 | 8 | 27597169 | 3 prime UTR variant | T/C | snv | 6.2E-02 | 4.7E-02 | 0.020 | 1.000 | 2 | 2013 | 2017 | |||
|
1 | 1.000 | 0.080 | 8 | 42353758 | intron variant | T/C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 2 | 10345283 | intron variant | A/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
9 | 0.763 | 0.240 | 19 | 11113361 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||
|
6 | 0.827 | 0.120 | 19 | 38894892 | intron variant | T/C | snv | 0.68 | 0.67 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.080 | 19 | 36449796 | synonymous variant | A/G | snv | 3.3E-02 | 3.5E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 |