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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 4 | 87982700 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.020 | 0.500 | 2 | 2002 | 2017 | |||
|
1 | 1.000 | 0.080 | 1 | 182822176 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
11 | 0.742 | 0.400 | 1 | 161626196 | missense variant | C/A;G;T | snv | 1.5E-03; 1.2E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
2 | 0.925 | 0.080 | 16 | 28933379 | synonymous variant | G/A;T | snv | 3.2E-05; 0.30 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.900 | 0.972 | 36 | 2004 | 2019 | |||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.050 | 0.800 | 5 | 2004 | 2016 | |||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.040 | 0.750 | 4 | 2004 | 2016 | ||||
|
7 | 0.851 | 0.240 | 16 | 3657746 | missense variant | G/A;T | snv | 0.36; 4.0E-06 | 0.030 | 0.667 | 3 | 2004 | 2013 | ||||
|
3 | 0.882 | 0.160 | 12 | 6333790 | missense variant | G/A;T | snv | 1.0E-04 | 0.020 | 1.000 | 2 | 2004 | 2004 | ||||
|
1 | 1.000 | 0.080 | 9 | 35612990 | missense variant | G/A | snv | 7.0E-06 | 0.020 | 1.000 | 2 | 2004 | 2006 | ||||
|
1 | 1.000 | 0.080 | 12 | 6333441 | missense variant | C/T | snv | 4.0E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
31 | 0.645 | 0.520 | 4 | 153704936 | missense variant | C/T | snv | 8.8E-05 | 9.8E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
20 | 0.695 | 0.440 | 16 | 27342243 | missense variant | G/A;T | snv | 3.6E-05; 2.9E-04 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
98 | 0.525 | 0.800 | 4 | 153705165 | missense variant | G/A | snv | 1.7E-02 | 1.8E-02 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
5 | 0.851 | 0.160 | 1 | 169691640 | 3 prime UTR variant | A/G | snv | 0.27 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
17 | 0.724 | 0.640 | 6 | 32396039 | missense variant | T/C | snv | 0.42 | 0.40 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
2 | 1.000 | 0.080 | 1 | 161662856 | upstream gene variant | G/C | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
26 | 0.662 | 0.520 | 7 | 128938247 | splice donor variant | T/G | snv | 0.52 | 0.100 | 0.889 | 18 | 2006 | 2019 | ||||
|
10 | 0.752 | 0.440 | 7 | 128954671 | 3 prime UTR variant | C/T | snv | 0.64 | 0.060 | 1.000 | 6 | 2006 | 2017 | ||||
|
3 | 0.882 | 0.160 | 1 | 161671427 | stop gained | C/T | snv | 2.8E-05 | 0.030 | 1.000 | 3 | 2006 | 2008 | ||||
|
10 | 0.763 | 0.400 | 2 | 113132727 | missense variant | T/A;C | snv | 4.0E-06; 0.31 | 0.020 | 0.500 | 2 | 2006 | 2013 | ||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.020 | 0.500 | 2 | 2006 | 2013 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.020 | 0.500 | 2 | 2006 | 2013 | ||||
|
7 | 0.790 | 0.200 | 2 | 203876143 | downstream gene variant | C/T | snv | 0.36 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
2 | 1.000 | 0.080 | 19 | 12940307 | missense variant | T/C | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 |