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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
98 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.100 | 0.750 | 12 | 2009 | 2018 | ||||
|
16 | 0.776 | 0.360 | 16 | 53796553 | intron variant | A/G | snv | 0.36 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 16 | 3066185 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.882 | 0.160 | 16 | 53786591 | intron variant | G/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 9 | 123856954 | intron variant | G/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
62 | 0.583 | 0.680 | 6 | 151842246 | intron variant | A/G | snv | 0.32 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 22 | 17209656 | missense variant | C/T | snv | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||||
|
82 | 0.547 | 0.720 | 11 | 46739084 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
1 | 1.000 | 0.120 | 12 | 56769532 | intron variant | C/G;T | snv | 0.040 | 0.250 | 4 | 2006 | 2015 | |||||
|
2 | 1.000 | 0.120 | 12 | 56086799 | intron variant | G/A | snv | 0.61 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 17 | 7631631 | missense variant | C/A | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
113 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 0.060 | 1.000 | 6 | 2010 | 2019 | ||||
|
1 | 1.000 | 0.120 | 20 | 32832951 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
6 | 0.882 | 0.160 | 1 | 209701909 | intron variant | A/G | snv | 0.95 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 1 | 209685108 | intron variant | A/G | snv | 0.97 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
42 | 0.605 | 0.600 | 6 | 43769749 | upstream gene variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2019 | 2019 | |||||
|
28 | 0.667 | 0.440 | 4 | 23814039 | missense variant | C/T | snv | 0.31 | 0.26 | 0.030 | 1.000 | 3 | 2010 | 2018 | |||
|
1 | 1.000 | 0.120 | 19 | 4795635 | 3 prime UTR variant | G/C | snv | 0.66 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 1.000 | 0.120 | 19 | 7182742 | intron variant | T/A | snv | 0.23 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 19 | 7165528 | intron variant | C/T | snv | 3.7E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 19 | 40246116 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
14 | 0.752 | 0.280 | 6 | 88140381 | 3 prime UTR variant | T/C | snv | 0.19 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
32 | 0.716 | 0.560 | 16 | 53782363 | intron variant | C/A | snv | 0.40 | 0.030 | 1.000 | 3 | 2015 | 2018 | ||||
|
1 | 1.000 | 0.120 | 16 | 52341865 | intergenic variant | A/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 8 | 11766380 | upstream gene variant | A/T | snv | 0.72 | 0.700 | 1.000 | 2 | 2015 | 2018 |