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 | 0.658 | 0.440 | 3 | 52226766 | intron variant | A/G | snv | 0.20 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 9 | 135121519 | downstream gene variant | A/G | snv | 0.11 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 11 | 123095918 | intron variant | A/G | snv | 0.41 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 5 | 24058406 | intron variant | A/G | snv | 7.5E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 5 | 67247451 | regulatory region variant | A/G | snv | 4.5E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
9 | 0.925 | 0.040 | 2 | 233765830 | intron variant | A/G | snv | 0.32 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 17 | 57885718 | 5 prime UTR variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
2 | 5 | 24060490 | intron variant | A/T | snv | 7.4E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 11 | 56495642 | upstream gene variant | A/T | snv | 0.58 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 1.000 | 0.040 | 6 | 31268906 | 3 prime UTR variant | C/- | delins | 6.2E-04 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
9 | 0.790 | 0.240 | 2 | 189565370 | missense variant | C/A | snv | 3.8E-03 | 1.6E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
4 | 0.925 | 0.120 | 6 | 25784253 | intron variant | C/A | snv | 0.34 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 9 | 14841389 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
42 | 0.630 | 0.680 | 3 | 52222681 | synonymous variant | C/A;G;T | snv | 2.0E-05; 0.49 | 0.020 | 1.000 | 2 | 2014 | 2019 | ||||
|
1 | 3 | 39332411 | missense variant | C/A;G;T | snv | 4.0E-06; 0.21; 2.8E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 18 | 43322011 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
2 | 11 | 123058167 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
2 | 8 | 26048781 | upstream gene variant | C/A;T | snv | 0.13 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 5 | 24062454 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
79 | 0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
88 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
4 | 2 | 233755003 | splice region variant | C/G;T | snv | 0.48 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 5 | 24072508 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
51 | 0.602 | 0.640 | 4 | 186082920 | missense variant | C/G;T | snv | 1.2E-04; 0.28 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 2 | 136115275 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 1999 | 1999 |