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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||
|
26 | 0.662 | 0.520 | 7 | 128938247 | splice donor variant | T/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
6 | 0.827 | 0.280 | 7 | 128948946 | 3 prime UTR variant | T/C | snv | 9.0E-02 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
22 | 0.672 | 0.520 | 11 | 126292948 | missense variant | C/T | snv | 0.12 | 0.11 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
20 | 0.689 | 0.520 | 4 | 122588266 | regulatory region variant | G/T | snv | 0.10 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
9 | 0.763 | 0.400 | 2 | 191105394 | intron variant | C/G | snv | 0.77 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
14 | 0.732 | 0.520 | 16 | 31265490 | missense variant | G/A | snv | 9.7E-02 | 0.11 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
59 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 0.030 | 0.667 | 3 | 2010 | 2013 | ||||
|
11 | 0.752 | 0.360 | 4 | 101829919 | missense variant | G/A;T | snv | 0.26; 8.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.200 | 6 | 31592893 | 5 prime UTR variant | C/T | snv | 2.4E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.807 | 0.400 | 1 | 173197108 | intron variant | A/G | snv | 0.72 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
18 | 0.695 | 0.520 | 8 | 11491677 | intron variant | G/A | snv | 0.25 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
7 | 0.807 | 0.280 | 4 | 101829765 | intron variant | T/C | snv | 0.25 | 0.27 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
9 | 0.763 | 0.400 | 1 | 173222336 | intergenic variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
6 | 0.807 | 0.400 | 8 | 11486171 | upstream gene variant | A/G | snv | 0.83 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.280 | 8 | 11498312 | intron variant | A/G | snv | 0.84 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.280 | 5 | 151076171 | intron variant | A/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.882 | 0.240 | 4 | 101794731 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
4 | 0.851 | 0.240 | 1 | 173257056 | intergenic variant | T/G | snv | 0.29 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
13 | 0.732 | 0.400 | 5 | 151077924 | intron variant | G/C | snv | 0.44 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.807 | 0.320 | 8 | 11482672 | upstream gene variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
6 | 0.807 | 0.280 | 1 | 173254724 | regulatory region variant | G/A | snv | 0.46 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
8 | 0.807 | 0.320 | 13 | 108285104 | intron variant | T/A | snv | 0.21 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
73 | 0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
12 | 0.752 | 0.440 | 13 | 108269025 | intron variant | C/T | snv | 0.35 | 0.010 | 1.000 | 1 | 2014 | 2014 |