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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
31 | 0.701 | 0.360 | 15 | 89327201 | missense variant | C/T | snv | 5.1E-04 | 6.7E-04 | 0.700 | 1.000 | 41 | 2001 | 2018 | |||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.100 | 0.842 | 38 | 2004 | 2019 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.100 | 0.833 | 36 | 2004 | 2019 | ||||
|
27 | 0.695 | 0.120 | 12 | 2236129 | intron variant | G/A | snv | 0.36 | 0.900 | 0.964 | 28 | 2008 | 2019 | ||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.100 | 1.000 | 16 | 1997 | 2017 | |||
|
12 | 0.776 | 0.160 | 10 | 60420054 | intron variant | C/T | snv | 7.5E-02 | 0.900 | 0.933 | 15 | 2008 | 2018 | ||||
|
21 | 0.701 | 0.160 | 2 | 184913701 | intron variant | A/C;T | snv | 0.100 | 0.867 | 15 | 2011 | 2020 | |||||
|
9 | 0.790 | 0.080 | 3 | 36814539 | downstream gene variant | T/C | snv | 0.45 | 0.810 | 1.000 | 10 | 2010 | 2019 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.080 | 0.875 | 8 | 2006 | 2014 | |||
|
6 | 0.827 | 0.080 | 11 | 79366149 | intron variant | A/G | snv | 0.15 | 0.820 | 1.000 | 7 | 2011 | 2018 | ||||
|
5 | 0.882 | 0.040 | 10 | 60080073 | intron variant | C/T | snv | 0.30 | 0.070 | 0.857 | 7 | 2009 | 2018 | ||||
|
3 | 0.882 | 0.040 | 10 | 60540625 | intron variant | A/G | snv | 8.3E-02 | 0.840 | 1.000 | 6 | 2011 | 2017 | ||||
|
16 | 0.752 | 0.280 | 12 | 121184393 | missense variant | A/G | snv | 0.13 | 0.12 | 0.060 | 1.000 | 6 | 2006 | 2019 | |||
|
8 | 0.790 | 0.120 | 6 | 152469438 | intron variant | G/T | snv | 0.46 | 0.820 | 1.000 | 6 | 2011 | 2019 | ||||
|
3 | 0.882 | 0.120 | 19 | 19250926 | 3 prime UTR variant | G/A | snv | 0.24 | 0.850 | 1.000 | 5 | 2011 | 2015 | ||||
|
82 | 0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 | 0.050 | 1.000 | 5 | 2003 | 2014 | |||
|
1 | 1.000 | 0.040 | 12 | 2310730 | intron variant | A/T | snv | 0.82 | 0.810 | 1.000 | 4 | 2011 | 2017 | ||||
|
7 | 0.827 | 0.040 | 10 | 60462349 | intron variant | T/C | snv | 8.0E-02 | 0.810 | 1.000 | 3 | 2013 | 2014 | ||||
|
5 | 0.851 | 0.040 | 10 | 60519366 | intron variant | C/T | snv | 9.5E-02 | 0.800 | 1.000 | 3 | 2011 | 2014 | ||||
|
5 | 0.827 | 0.200 | 22 | 38299094 | intron variant | T/C | snv | 0.90 | 0.030 | 1.000 | 3 | 2008 | 2018 | ||||
|
14 | 0.763 | 0.160 | 1 | 98037378 | intron variant | G/T | snv | 0.78 | 0.720 | 1.000 | 3 | 2012 | 2013 | ||||
|
14 | 0.732 | 0.120 | 3 | 52550771 | synonymous variant | T/C;G | snv | 0.39; 4.0E-06 | 0.34 | 0.720 | 1.000 | 3 | 2012 | 2013 | |||
|
20 | 0.701 | 0.320 | 3 | 120094435 | upstream gene variant | A/G | snv | 0.51 | 0.030 | 1.000 | 3 | 2014 | 2017 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.030 | 1.000 | 3 | 2007 | 2008 | |||||
|
2 | 0.925 | 0.040 | 16 | 23622705 | intron variant | A/C;G | snv | 0.810 | 1.000 | 3 | 2007 | 2011 |