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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.100 | 0.850 | 20 | 2003 | 2018 | ||||
|
46 | 0.611 | 0.600 | 16 | 50722629 | missense variant | G/C;T | snv | 1.1E-02; 2.2E-04 | 0.800 | 0.846 | 13 | 2002 | 2018 | ||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.800 | 0.923 | 13 | 2004 | 2017 | ||||
|
46 | 0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 | 0.850 | 1.000 | 9 | 2009 | 2018 | ||||
|
97 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 0.080 | 0.875 | 8 | 2005 | 2018 | ||||
|
10 | 0.763 | 0.280 | 9 | 4981602 | upstream gene variant | C/A;T | snv | 0.830 | 1.000 | 6 | 2010 | 2016 | |||||
|
6 | 0.827 | 0.080 | 19 | 17192965 | missense variant | T/A;G | snv | 1.3E-05; 0.52 | 0.060 | 0.833 | 6 | 2009 | 2016 | ||||
|
8 | 0.807 | 0.080 | 10 | 77856847 | missense variant | T/A;C | snv | 0.93 | 0.040 | 0.750 | 4 | 2006 | 2016 | ||||
|
6 | 0.827 | 0.040 | 16 | 50710812 | missense variant | G/A;T | snv | 4.0E-06; 4.0E-06 | 0.040 | 0.750 | 4 | 2008 | 2019 | ||||
|
2 | 0.925 | 0.120 | 16 | 68557327 | intron variant | A/C;T | snv | 0.77; 7.8E-06 | 0.810 | 1.000 | 4 | 2009 | 2017 | ||||
|
15 | 0.763 | 0.200 | 16 | 50710713 | missense variant | C/A;T | snv | 4.0E-06; 0.19 | 0.040 | 0.750 | 4 | 2002 | 2014 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.030 | 1.000 | 3 | 2007 | 2017 | ||||
|
20 | 0.695 | 0.480 | 1 | 247448734 | 3 prime UTR variant | G/C;T | snv | 0.030 | 1.000 | 3 | 2014 | 2018 | |||||
|
2 | 1.000 | 0.040 | 16 | 30471173 | upstream gene variant | T/A;C;G | snv | 0.800 | 1.000 | 3 | 2012 | 2017 | |||||
|
8 | 0.790 | 0.160 | 2 | 218145423 | regulatory region variant | C/G;T | snv | 0.810 | 1.000 | 3 | 2011 | 2016 | |||||
|
7 | 0.807 | 0.200 | 17 | 42375526 | intron variant | A/G;T | snv | 0.700 | 1.000 | 3 | 2015 | 2017 | |||||
|
28 | 0.662 | 0.440 | 3 | 37012077 | missense variant | A/C;G;T | snv | 0.23 | 0.030 | 0.667 | 3 | 2004 | 2009 | ||||
|
14 | 0.716 | 0.440 | 1 | 67228519 | intron variant | A/G;T | snv | 0.820 | 1.000 | 3 | 2010 | 2017 | |||||
|
16 | 0.716 | 0.400 | 9 | 114790969 | missense variant | T/A;C | snv | 0.76 | 0.800 | 1.000 | 3 | 2011 | 2015 | ||||
|
2 | 1.000 | 0.040 | 7 | 107839870 | intergenic variant | T/A;C;G | snv | 0.800 | 1.000 | 3 | 2012 | 2017 | |||||
|
10 | 0.776 | 0.200 | 1 | 151829204 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 3 | 2015 | 2017 | |||||
|
7 | 0.807 | 0.160 | 5 | 159400761 | intron variant | C/A;T | snv | 0.700 | 1.000 | 3 | 2015 | 2017 | |||||
|
4 | 1.000 | 0.040 | 7 | 2750246 | intron variant | A/C;G | snv | 0.800 | 1.000 | 3 | 2011 | 2017 | |||||
|
5 | 0.827 | 0.200 | 6 | 32463370 | intron variant | A/G;T | snv | 0.810 | 1.000 | 3 | 2008 | 2018 | |||||
|
3 | 0.925 | 0.120 | 1 | 161502368 | upstream gene variant | A/G;T | snv | 0.800 | 1.000 | 2 | 2010 | 2015 |