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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
20 | 0.724 | 0.160 | 6 | 88150763 | intron variant | T/C | snv | 0.21 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 6 | 88156182 | intron variant | A/G | snv | 0.32 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
48 | 0.637 | 0.440 | 1 | 46405089 | missense variant | C/A | snv | 0.24 | 0.26 | 0.050 | 1.000 | 5 | 2007 | 2013 | |||
|
77 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 0.020 | 1.000 | 2 | 2016 | 2018 | |||
|
34 | 0.683 | 0.480 | 18 | 60183864 | intergenic variant | T/C | snv | 0.24 | 0.020 | 1.000 | 2 | 2013 | 2016 | ||||
|
98 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.020 | 1.000 | 2 | 2013 | 2017 | ||||
|
7 | 0.925 | 0.080 | 2 | 164656581 | intron variant | T/C | snv | 0.48 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 1 | 65432298 | 3 prime UTR variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 1.000 | 10 | 63577393 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
10 | 0.882 | 0.120 | 9 | 28414341 | intron variant | A/G | snv | 0.26 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
18 | 0.807 | 0.240 | 16 | 53775335 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
52 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
11 | 0.752 | 0.320 | 3 | 186841671 | upstream gene variant | G/A | snv | 5.3E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 0.925 | 0.080 | 1 | 65570758 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
22 | 0.732 | 0.200 | 18 | 60372043 | missense variant | C/T | snv | 1.6E-02 | 1.6E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
3 | 0.925 | 0.080 | 10 | 112375255 | non coding transcript exon variant | C/T | snv | 0.23 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
22 | 0.724 | 0.480 | 12 | 111672685 | synonymous variant | T/C | snv | 1.9E-02 | 5.9E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
12 | 0.763 | 0.280 | 5 | 75355259 | non coding transcript exon variant | A/G | snv | 0.50 | 0.58 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
7 | 0.882 | 0.120 | 5 | 75359901 | intron variant | C/T | snv | 0.35 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.120 | 2 | 164645339 | intergenic variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.120 | 2 | 27510585 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
9 | 0.790 | 0.160 | 3 | 186619924 | missense variant | T/C | snv | 0.68 | 0.68 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
65 | 0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
10 | 0.776 | 0.120 | X | 8945785 | intergenic variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 |