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 | 0.926 | 27 | 2003 | 2019 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.100 | 0.688 | 16 | 2005 | 2019 | |||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.060 | 0.833 | 6 | 2008 | 2017 | ||||
|
101 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 0.060 | 0.667 | 6 | 2014 | 2019 | |||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.060 | 0.833 | 6 | 2006 | 2017 | |||
|
17 | 0.708 | 0.240 | 2 | 48962782 | missense variant | C/T | snv | 0.57 | 0.57 | 0.060 | 0.500 | 6 | 2011 | 2017 | |||
|
34 | 0.653 | 0.600 | 7 | 17339486 | missense variant | G/A | snv | 0.15 | 0.22 | 0.040 | 0.750 | 4 | 2004 | 2019 | |||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.030 | 1.000 | 3 | 2012 | 2018 | ||||
|
3 | 0.925 | 0.040 | 19 | 374362 | missense variant | C/T | snv | 8.0E-05 | 4.9E-05 | 0.030 | 1.000 | 3 | 2012 | 2018 | |||
|
1 | 16 | 11281429 | intron variant | G/T | snv | 0.21 | 0.030 | 1.000 | 3 | 2015 | 2018 | ||||||
|
1 | 20 | 57335452 | missense variant | C/T | snv | 5.7E-05 | 0.030 | 1.000 | 3 | 2011 | 2017 | ||||||
|
3 | 0.925 | 0.040 | X | 104013293 | missense variant | T/C | snv | 0.38 | 0.030 | 1.000 | 3 | 2012 | 2018 | ||||
|
14 | 0.724 | 0.160 | 2 | 48963902 | missense variant | C/G;T | snv | 4.0E-06; 0.55 | 0.030 | 0.333 | 3 | 2011 | 2015 | ||||
|
2 | 1.000 | 0.040 | 14 | 72683993 | intron variant | C/T | snv | 0.49 | 0.020 | 1.000 | 2 | 2018 | 2018 | ||||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.020 | 1.000 | 2 | 2013 | 2018 | |||
|
5 | 0.851 | 0.040 | 12 | 24031610 | intron variant | G/C | snv | 0.43 | 0.020 | 1.000 | 2 | 2014 | 2019 | ||||
|
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 |