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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
21 | 0.701 | 0.360 | 20 | 63678486 | intron variant | A/C;G | snv | 0.800 | 1.000 | 5 | 2009 | 2014 | |||||
|
53 | 0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 | 0.700 | 1.000 | 2 | 2015 | 2017 | ||||
|
2 | 1.000 | 0.040 | 11 | 118609400 | intron variant | G/C;T | snv | 0.700 | 1.000 | 2 | 2015 | 2017 | |||||
|
11 | 0.763 | 0.200 | 8 | 129673211 | intron variant | T/G | snv | 0.17 | 0.700 | 1.000 | 2 | 2009 | 2011 | ||||
|
24 | 0.683 | 0.440 | 9 | 22068653 | intron variant | G/A | snv | 0.64 | 0.700 | 1.000 | 2 | 2009 | 2012 | ||||
|
16 | 0.732 | 0.080 | 8 | 129633446 | intron variant | A/G | snv | 3.9E-02 | 0.700 | 1.000 | 2 | 2015 | 2017 | ||||
|
2 | 1.000 | 0.040 | 14 | 32780875 | intron variant | G/A | snv | 9.3E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 1 | 108150714 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
4 | 0.882 | 0.040 | 16 | 50094961 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 1.000 | 0.040 | 1 | 245683732 | intron variant | C/T | snv | 0.15 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.040 | 1 | 246320481 | intron variant | G/A | snv | 0.20 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.040 | 12 | 132799954 | intron variant | T/C | snv | 5.3E-04 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 0.040 | 11 | 82685972 | intron variant | C/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 1 | 238358337 | intron variant | G/T | snv | 0.17 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.040 | 10 | 103901557 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 1.000 | 0.040 | 10 | 112699938 | intron variant | G/A | snv | 0.27 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 3 | 66452557 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 0.882 | 0.040 | 7 | 55091656 | intron variant | A/G;T | snv | 0.20 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.040 | 1 | 243688645 | intron variant | G/C | snv | 0.20 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.882 | 0.040 | 12 | 75848895 | intron variant | A/G | snv | 0.48 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 1 | 211337552 | intron variant | A/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.882 | 0.040 | 1 | 64763616 | intron variant | T/C | snv | 0.13 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 12 | 75869771 | intron variant | T/A | snv | 0.47 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
14 | 0.742 | 0.400 | 9 | 22043927 | intron variant | A/G | snv | 0.28 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 19 | 50406132 | intron variant | T/A;G | snv | 0.73 | 0.79 | 0.010 | 1.000 | 1 | 2017 | 2017 |