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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.917 | 12 | 2006 | 2018 | |||
|
77 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 0.060 | 1.000 | 6 | 2009 | 2018 | |||
|
6 | 0.827 | 0.280 | 1 | 209706914 | intron variant | T/G | snv | 0.21 | 0.20 | 0.040 | 1.000 | 4 | 2011 | 2017 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.040 | 1.000 | 4 | 2008 | 2016 | |||||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.030 | 0.333 | 3 | 2001 | 2011 | |||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.020 | 1.000 | 2 | 2014 | 2014 | |||
|
57 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 0.020 | 1.000 | 2 | 2006 | 2013 | ||||
|
6 | 0.851 | 0.120 | 1 | 156137743 | splice region variant | C/T | snv | 0.26 | 0.21 | 0.020 | 1.000 | 2 | 2007 | 2010 | |||
|
10 | 0.752 | 0.440 | 1 | 9263851 | missense variant | G/A;C | snv | 0.28; 1.2E-04 | 0.020 | 1.000 | 2 | 2011 | 2019 | ||||
|
19 | 0.724 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.020 | 1.000 | 2 | 2012 | 2020 | |||||
|
6 | 0.882 | 0.160 | 1 | 209701909 | intron variant | A/G | snv | 0.95 | 0.020 | 1.000 | 2 | 2011 | 2017 | ||||
|
2 | 0.925 | 0.080 | 1 | 209721316 | intron variant | G/A | snv | 0.18 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 1 | 7817996 | intron variant | A/G | snv | 0.58 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.827 | 0.120 | 1 | 190092815 | downstream gene variant | A/T | snv | 0.18 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 1 | 202956690 | intron variant | G/A | snv | 0.22 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
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 | |||
|
46 | 0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
4 | 0.882 | 0.200 | 1 | 154408627 | intron variant | A/G | snv | 0.22 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
12 | 0.763 | 0.280 | 1 | 65621409 | missense variant | A/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
21 | 0.716 | 0.400 | 1 | 155236354 | missense variant | T/C | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.080 | 1 | 230710026 | synonymous variant | G/A;C | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
3 | 0.882 | 0.080 | 1 | 162368607 | 3 prime UTR variant | A/C | snv | 0.76 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.400 | 1 | 9264154 | missense variant | C/A;T | snv | 0.12 | 8.9E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
8 | 0.827 | 0.200 | 1 | 53210776 | missense variant | G/A | snv | 0.49 | 0.46 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
93 | 0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 | 0.010 | 1.000 | 1 | 2014 | 2014 |