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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.925 | 0.080 | 1 | 65477024 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
16 | 0.716 | 0.160 | 10 | 112520943 | intron variant | T/C | snv | 0.13 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 2 | 75174939 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
12 | 0.776 | 0.120 | 1 | 202952912 | intron variant | C/T | snv | 0.26 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
29 | 0.658 | 0.400 | 8 | 127472793 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
52 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
18 | 0.708 | 0.320 | 2 | 100843581 | intron variant | T/C | snv | 8.3E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.882 | 0.080 | 4 | 149751362 | intron variant | G/A | snv | 4.9E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 19 | 38049092 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.080 | 13 | 91353800 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
29 | 0.658 | 0.400 | 1 | 206776020 | intron variant | A/T | snv | 0.32 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.080 | 15 | 51319457 | intron variant | A/T | snv | 8.2E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 0.827 | 0.120 | 7 | 20164512 | intron variant | A/C | snv | 0.27 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
18 | 0.708 | 0.320 | 22 | 35380679 | intron variant | A/T | snv | 0.49 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 0.200 | 12 | 12138545 | intron variant | G/A;C | snv | 0.18 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
13 | 0.742 | 0.240 | 5 | 83076927 | intron variant | C/T | snv | 1.7E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
30 | 0.649 | 0.280 | 10 | 88989499 | intron variant | G/A;T | snv | 0.15 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
10 | 0.776 | 0.080 | 12 | 11856807 | intron variant | A/G | snv | 0.18 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 12 | 47883930 | intron variant | C/T | snv | 0.20 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 12 | 47879931 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
48 | 0.605 | 0.640 | 12 | 68808800 | intron variant | T/G | snv | 0.31 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
2 | 0.925 | 0.080 | 14 | 101033612 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
38 | 0.645 | 0.480 | 4 | 71742666 | intron variant | T/G | snv | 0.21 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 12 | 12122001 | intron variant | T/C | snv | 0.45 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.807 | 0.120 | 2 | 10448012 | intron variant | C/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2009 | 2009 |