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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 16 | 2084306 | frameshift variant | -/TCTCCTCG | delins | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
10 | 0.827 | 0.160 | 1 | 156134830 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
113 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
11 | 0.790 | 0.200 | 1 | 222650187 | intron variant | A/C;G;T | snv | 0.64; 6.4E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2011 | 2014 | |||
|
1 | 10 | 51145734 | intron variant | A/G | snv | 0.45 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
2 | 1.000 | 0.080 | 7 | 80661053 | intron variant | A/G | snv | 0.97 | 0.92 | 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 | 2010 | 2010 | |||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
33 | 0.658 | 0.480 | 6 | 32184610 | upstream gene variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
26 | 0.695 | 0.520 | 9 | 22098575 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 0.851 | 0.200 | 17 | 63941169 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
3 | 1.000 | 0.160 | X | 101398432 | missense variant | C/A;T | snv | 3.0E-03; 5.4E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
8 | 0.807 | 0.200 | 3 | 8745644 | missense variant | C/A;T | snv | 4.0E-06; 2.6E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
9 | 0.807 | 0.200 | 3 | 138403280 | 3 prime UTR variant | C/A;T | snv | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||||
|
11 | 0.776 | 0.280 | X | 101403984 | missense variant | C/G | snv | 1.2E-04 | 1.9E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 1.000 | 0.080 | 6 | 31531826 | intron variant | C/G | snv | 0.13 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.882 | 0.120 | 3 | 38554309 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
11 | 0.807 | 0.160 | 1 | 182112825 | intron variant | C/T | snv | 0.36 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.120 | 7 | 150951484 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
24 | 0.689 | 0.280 | 9 | 104858586 | missense variant | C/T | snv | 0.32 | 0.39 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 1.000 | 0.080 | 7 | 150965242 | intron variant | C/T | snv | 0.70 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1 | 156114996 | synonymous variant | C/T | snv | 2.2E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
36 | 0.653 | 0.560 | 18 | 31598655 | missense variant | G/A | snv | 1.1E-03 | 4.9E-03 | 0.020 | 1.000 | 2 | 2007 | 2017 |