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 | 10 | 35127641 | intron variant | G/A | snv | 0.14 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1.000 | 0.040 | 5 | 170715913 | intron variant | C/G;T | snv | 0.21 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
11 | 0.790 | 0.160 | 11 | 113475529 | intron variant | -/G | delins | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
8 | 0.882 | 0.160 | 6 | 34335092 | intron variant | A/G | snv | 0.34 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 18 | 11774501 | intron variant | A/G | snv | 0.31 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
5 | 0.882 | 0.240 | 9 | 34521869 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
12 | 0.776 | 0.160 | 11 | 113414814 | intron variant | C/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 1.000 | 0.040 | 12 | 13713238 | intron variant | C/T | snv | 0.34 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 3 | 11011556 | intron variant | T/C | snv | 0.25 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.925 | 0.080 | 20 | 10245498 | intron variant | C/T | snv | 0.30 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.882 | 0.080 | 5 | 1411740 | intron variant | -/ACATACACACTCAGACACACATACCATGCA | ins | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 19 | 53888383 | intron variant | T/C | snv | 0.39 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
1 | 19 | 16908042 | intron variant | C/T | snv | 0.56 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 9 | 16208133 | intron variant | G/T | snv | 1.6E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
2 | 1.000 | 0.040 | 3 | 10998753 | intron variant | G/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
19 | 0.851 | 0.200 | 4 | 45180510 | intergenic variant | A/G | snv | 0.37 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 1.000 | 0.040 | 7 | 153838604 | intergenic variant | C/G | snv | 0.32 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.925 | 0.040 | 14 | 55733755 | intergenic variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 1.000 | 0.080 | 6 | 1610761 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 0.080 | 6 | 1610586 | stop gained | C/G;T | snv | 1.8E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
14 | 0.790 | 0.160 | X | 154030948 | stop gained | G/A;C | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
10 | 0.925 | 0.120 | 8 | 43192413 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
19 | 0.807 | 0.280 | 1 | 26773716 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
21 | 0.732 | 0.360 | 17 | 42543921 | stop gained | G/A;C;T | snv | 4.2E-06 | 0.700 | 0 | |||||||
|
59 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.040 | 1.000 | 4 | 2006 | 2018 |