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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
24 | 0.683 | 0.320 | 9 | 22125348 | intron variant | A/C | snv | 0.44 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
95 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 0.090 | 1.000 | 9 | 2004 | 2019 | |||
|
3 | 0.925 | 0.080 | 9 | 133657065 | splice region variant | A/G | snv | 0.28; 4.0E-06 | 0.25 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
5 | 0.925 | 0.080 | 11 | 2165105 | intron variant | A/G | snv | 0.43 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.882 | 0.080 | 4 | 102532823 | intron variant | A/G | snv | 0.37 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 2 | 105840835 | intron variant | A/G | snv | 4.8E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 7 | 108141755 | intergenic variant | A/G | snv | 0.74 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 1.000 | 0.080 | 3 | 127724009 | intron variant | A/G | snv | 0.91 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.882 | 0.200 | 22 | 19962641 | missense variant | A/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
5 | 0.882 | 0.200 | 22 | 19962797 | missense variant | A/G | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
9 | 0.882 | 0.080 | 6 | 151944320 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
7 | 0.827 | 0.040 | 12 | 79430071 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
48 | 0.637 | 0.440 | 1 | 46405089 | missense variant | C/A | snv | 0.24 | 0.26 | 0.050 | 1.000 | 5 | 2004 | 2020 | |||
|
12 | 0.776 | 0.160 | 11 | 113414814 | intron variant | C/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.160 | 8 | 107347040 | missense variant | C/A | snv | 8.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.925 | 0.160 | 3 | 165773193 | 3 prime UTR variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.882 | 0.120 | 8 | 53250920 | missense variant | C/A;T | snv | 8.3E-06; 4.1E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.080 | 4 | 46388848 | 5 prime UTR variant | C/G | snv | 0.27 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 1 | 204858913 | intron variant | C/G | snv | 0.11 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
42 | 0.630 | 0.600 | 6 | 88143916 | synonymous variant | C/T | snv | 0.21 | 0.20 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 7 | 100890786 | 3 prime UTR variant | C/T | snv | 1.5E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1.000 | 0.080 | 8 | 32579499 | intron variant | C/T | snv | 1.0E-01 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
13 | 0.763 | 0.360 | 3 | 165773492 | missense variant | C/T | snv | 0.18 | 0.18 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
4 | 0.925 | 0.080 | 11 | 113436043 | intron variant | C/T | snv | 0.73 | 0.010 | 1.000 | 1 | 2020 | 2020 |