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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 3 | 43189231 | intergenic variant | C/G | snv | 5.9E-02 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 11 | 10718819 | intergenic variant | C/G | snv | 0.59 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
3 | 0.925 | 0.040 | 22 | 38127239 | non coding transcript exon variant | C/G | snv | 0.47 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 11 | 18244252 | intron variant | C/G;T | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | X | 53947621 | intron variant | C/G;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
3 | 0.925 | 0.040 | X | 123239256 | intron variant | C/G;T | snv | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.100 | 0.900 | 20 | 2006 | 2019 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.100 | 0.889 | 18 | 2006 | 2019 | ||||
|
57 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 0.030 | 1.000 | 3 | 2004 | 2008 | |||
|
2 | 1.000 | 0.040 | 8 | 31749079 | intron variant | C/T | snv | 7.8E-02 | 0.020 | 1.000 | 2 | 2013 | 2018 | ||||
|
5 | 0.882 | 0.160 | 7 | 1881190 | intron variant | C/T | snv | 0.35 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
42 | 0.630 | 0.600 | 6 | 88143916 | synonymous variant | C/T | snv | 0.21 | 0.20 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 1.000 | 0.040 | 1 | 183277955 | intron variant | C/T | snv | 9.4E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.925 | 0.040 | 9 | 84878840 | intron variant | C/T | snv | 0.40 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
11 | 0.807 | 0.080 | 1 | 11801287 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 1.000 | 0.040 | 2 | 102959630 | intron variant | C/T | snv | 7.8E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.925 | 0.200 | 10 | 3165320 | missense variant | C/T | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.925 | 0.040 | 4 | 179734472 | intergenic variant | C/T | snv | 5.3E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 8 | 57928365 | intron variant | C/T | snv | 0.14 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 11 | 98223945 | intergenic variant | C/T | snv | 0.38 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
18 | 0.708 | 0.440 | 20 | 32786453 | intron variant | C/T | snv | 0.56 | 0.53 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
4 | 0.925 | 0.040 | 11 | 113522272 | regulatory region variant | C/T | snv | 0.26 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 6 | 100308811 | intergenic variant | C/T | snv | 0.20 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 1.000 | 0.040 | 18 | 50719733 | intron variant | C/T | snv | 0.81 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 18 | 50674143 | intron variant | C/T | snv | 0.69 | 0.010 | 1.000 | 1 | 2015 | 2015 |