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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.882 | 0.040 | 1 | 3167148 | intron variant | T/A;C | snv | 0.880 | 1.000 | 9 | 2011 | 2020 | |||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.050 | 1.000 | 5 | 2003 | 2018 | |||||
|
3 | 0.925 | 0.040 | 9 | 116490350 | intron variant | A/G;T | snv | 0.800 | 1.000 | 3 | 2012 | 2016 | |||||
|
8 | 0.851 | 0.200 | 4 | 147519875 | missense variant | G/A | snv | 0.030 | 1.000 | 3 | 2001 | 2011 | |||||
|
12 | 0.742 | 0.240 | 11 | 101062681 | missense variant | C/A;G | snv | 0.13; 4.0E-06 | 0.020 | 0.500 | 2 | 2010 | 2015 | ||||
|
7 | 0.827 | 0.120 | 19 | 15192033 | synonymous variant | T/A;C | snv | 4.0E-06; 0.85 | 0.020 | 1.000 | 2 | 2006 | 2015 | ||||
|
3 | 14 | 93129246 | regulatory region variant | A/C;T | snv | 0.700 | 1.000 | 2 | 2016 | 2016 | |||||||
|
1 | 6 | 96412478 | intron variant | A/G;T | snv | 0.020 | 1.000 | 2 | 2015 | 2017 | |||||||
|
11 | 0.790 | 0.160 | 11 | 113475529 | intron variant | -/G | delins | 0.020 | 0.500 | 2 | 2013 | 2015 | |||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.020 | 0.500 | 2 | 2007 | 2011 | ||||
|
1 | 1 | 156480948 | missense variant | G/A;C | snv | 0.62 | 0.800 | 1.000 | 2 | 2012 | 2016 | ||||||
|
1 | 1 | 156486509 | intron variant | -/T | delins | 0.700 | 1.000 | 2 | 2012 | 2013 | |||||||
|
4 | 0.925 | 0.080 | X | 152652814 | missense variant | A/C;T | snv | 0.020 | 1.000 | 2 | 2013 | 2018 | |||||
|
42 | 0.623 | 0.520 | X | 114731326 | missense variant | C/G;T | snv | 0.020 | 0.500 | 2 | 2004 | 2007 | |||||
|
3 | 0.925 | 0.040 | 3 | 30438593 | intergenic variant | C/G;T | snv | 0.810 | 0.500 | 2 | 2013 | 2014 | |||||
|
4 | 0.925 | 0.120 | 7 | 151009827 | intron variant | G/A;C | snv | 0.020 | 1.000 | 2 | 2011 | 2012 | |||||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.020 | 0.500 | 2 | 2008 | 2015 | ||||
|
1 | 3 | 30420911 | regulatory region variant | G/A;T | snv | 0.810 | 1.000 | 2 | 2012 | 2014 | |||||||
|
1 | 9 | 29372503 | intergenic variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 1.000 | 0.040 | 12 | 4408974 | downstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
54 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 11 | 117286177 | 3 prime UTR variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 2 | 132469969 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 20 | 10703511 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |