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 | 1 | 159758337 | upstream gene variant | T/C | snv | 0.26 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.851 | 0.120 | 2 | 207517878 | intron variant | A/C | snv | 0.17 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
4 | 0.851 | 0.120 | 2 | 96745212 | intergenic variant | A/G | snv | 0.26 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
7 | 0.807 | 0.120 | 13 | 105516850 | intergenic variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
3 | 0.882 | 0.120 | 10 | 125424260 | intergenic variant | G/A | snv | 9.9E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 16 | 2337259 | intron variant | G/A | snv | 0.11 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.120 | 17 | 63485346 | missense variant | A/G | snv | 8.4E-05 | 1.6E-04 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
3 | 0.925 | 0.160 | 17 | 63492371 | intron variant | G/A | snv | 0.50 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.120 | 18 | 910634 | 3 prime UTR variant | A/G | snv | 0.26 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 1.000 | 0.080 | 22 | 24441941 | 3 prime UTR variant | -/T | delins | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 15 | 86992870 | intron variant | A/G | snv | 0.55 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 15 | 86996687 | intron variant | C/A | snv | 0.51 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 15 | 86311128 | intron variant | T/C | snv | 0.57 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
12 | 0.776 | 0.160 | 10 | 60420054 | intron variant | C/T | snv | 7.5E-02 | 0.020 | 0.500 | 2 | 2011 | 2014 | ||||
|
8 | 0.790 | 0.280 | 6 | 131572419 | intron variant | G/T | snv | 0.45 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
27 | 0.677 | 0.280 | 22 | 19969258 | 3 prime UTR variant | G/A | snv | 0.56 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
11 | 0.742 | 0.280 | 18 | 63153338 | intron variant | A/G | snv | 0.65 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.070 | 0.571 | 7 | 2003 | 2015 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.070 | 0.571 | 7 | 2003 | 2015 | ||||
|
36 | 0.645 | 0.480 | 11 | 27658414 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.020 | 0.500 | 2 | 2003 | 2010 | ||||
|
2 | 0.925 | 0.080 | 8 | 22163947 | missense variant | G/A | snv | 1.1E-03 | 4.3E-03 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 0.925 | 0.120 | 22 | 36700882 | intron variant | T/C | snv | 0.44 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.120 | 22 | 36701519 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 0.925 | 0.120 | 3 | 53821056 | intron variant | C/T | snv | 0.74 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.851 | 0.120 | 2 | 207603273 | 3 prime UTR variant | A/G | snv | 0.84 | 0.010 | 1.000 | 1 | 2018 | 2018 |