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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.925 | 0.080 | 10 | 124403892 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 0.020 | 1.000 | 2 | 2005 | 2015 | |||
|
32 | 0.645 | 0.560 | 14 | 64257333 | synonymous variant | C/T | snv | 6.7E-02 | 6.3E-02 | 0.020 | 1.000 | 2 | 2009 | 2014 | |||
|
1 | 16 | 11276073 | intron variant | C/G;T | snv | 0.37 | 0.020 | 1.000 | 2 | 2017 | 2018 | ||||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.020 | 0.500 | 2 | 2017 | 2018 | |||
|
9 | 0.776 | 0.240 | 14 | 75047125 | missense variant | G/A | snv | 0.40 | 0.43 | 0.020 | 1.000 | 2 | 2010 | 2015 | |||
|
17 | 0.716 | 0.400 | 8 | 18400593 | missense variant | G/A | snv | 0.27 | 0.27 | 0.020 | 1.000 | 2 | 2014 | 2018 | |||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.020 | 0.500 | 2 | 2006 | 2012 | |||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.020 | 0.500 | 2 | 2006 | 2012 | |||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.020 | 0.500 | 2 | 2013 | 2015 | |||
|
4 | 0.882 | 0.120 | 6 | 32977847 | missense variant | G/A | snv | 0.020 | 0.500 | 2 | 2011 | 2015 | |||||
|
6 | 0.882 | 0.120 | 6 | 31740551 | missense variant | C/T | snv | 0.13 | 9.1E-02 | 0.020 | 1.000 | 2 | 2010 | 2016 | |||
|
7 | 0.827 | 0.240 | 5 | 422840 | missense variant | C/G;T | snv | 0.38; 4.0E-06 | 0.020 | 1.000 | 2 | 2004 | 2019 | ||||
|
7 | 0.807 | 0.040 | 1 | 2461209 | intron variant | G/C | snv | 0.64 | 0.020 | 0.500 | 2 | 2014 | 2019 | ||||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.020 | 0.500 | 2 | 2017 | 2018 | |||
|
27 | 0.658 | 0.400 | 17 | 7633209 | missense variant | G/A | snv | 8.9E-02 | 8.1E-02 | 0.020 | 1.000 | 2 | 2011 | 2017 | |||
|
6 | 0.827 | 0.200 | 21 | 44250887 | missense variant | T/C | snv | 0.21 | 0.020 | 1.000 | 2 | 2012 | 2017 | ||||
|
1 | 19 | 41018248 | 3 prime UTR variant | T/C | snv | 0.21 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.925 | 0.080 | 17 | 27800492 | 5 prime UTR variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
88 | 0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 2 | 112663757 | 3 prime UTR variant | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
58 | 0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.925 | 0.040 | 7 | 5977709 | missense variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
6 | 0.827 | 0.200 | 6 | 31816809 | synonymous variant | G/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.040 | 9 | 25233486 | intergenic variant | G/A | snv | 0.32 | 0.010 | 1.000 | 1 | 2018 | 2018 |