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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.120 | 3 | 156689208 | intron variant | G/T | snv | 7.9E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 16 | 58942687 | intron variant | A/G | snv | 0.53 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 3 | 166315136 | intergenic variant | G/A | snv | 0.46 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.120 | 17 | 48334138 | intron variant | A/G | snv | 0.34 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 10 | 8603200 | intergenic variant | T/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
71 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
101 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
23 | 0.677 | 0.280 | 3 | 179218306 | missense variant | C/A;G | snv | 0.700 | 0 | ||||||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.030 | 1.000 | 3 | 2009 | 2016 | |||
|
29 | 0.653 | 0.440 | 13 | 32332592 | missense variant | A/C | snv | 0.28 | 0.23 | 0.020 | 0.500 | 2 | 2003 | 2015 | |||
|
97 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 0.020 | 1.000 | 2 | 2009 | 2013 | ||||
|
2 | 0.925 | 0.120 | 4 | 69591303 | intron variant | T/C | snv | 0.75 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 1 | 10378834 | 3 prime UTR variant | G/A | snv | 0.33 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | 7 | 35307237 | intergenic variant | G/A | snv | 0.47 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.120 | 7 | 11524758 | intron variant | C/G | snv | 0.26 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 0.925 | 0.120 | 3 | 128081228 | 3 prime UTR variant | A/G | snv | 0.22 | 0.23 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 0.925 | 0.120 | 1 | 17590467 | intron variant | A/G | snv | 0.59 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
64 | 0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | 7 | 55020815 | intron variant | T/C | snv | 1.4E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
9 | 0.763 | 0.160 | 17 | 37739849 | intron variant | T/C | snv | 0.52 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 20 | 41161795 | intron variant | C/T | snv | 4.4E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.010 | 1.000 | 1 | 2015 | 2015 |