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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.020 | 1.000 | 2 | 2005 | 2012 | |||
|
3 | 1.000 | 0.120 | 6 | 106150148 | intron variant | G/A | snv | 0.47 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||||
|
5 | 0.851 | 0.160 | 16 | 68822081 | stop gained | C/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
45 | 0.605 | 0.480 | 10 | 129708019 | missense variant | C/T | snv | 0.14 | 0.14 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
53 | 0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
151 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
29 | 0.658 | 0.400 | 1 | 206776020 | intron variant | A/T | snv | 0.32 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
46 | 0.611 | 0.600 | 10 | 44372809 | 3 prime UTR variant | C/T | snv | 0.16 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
41 | 0.605 | 0.600 | 8 | 89978251 | missense variant | C/G | snv | 0.35 | 0.31 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
7 | 0.807 | 0.200 | 9 | 5070058 | splice region variant | T/C | snv | 3.6E-04 | 1.1E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 0.882 | 0.120 | 19 | 1650135 | intron variant | A/C;G | snv | 6.7E-06; 0.54 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
23 | 0.677 | 0.480 | 11 | 117993348 | missense variant | A/G | snv | 0.13 | 0.11 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
10 | 0.790 | 0.280 | 14 | 35405648 | upstream gene variant | T/C | snv | 0.26 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
65 | 0.566 | 0.840 | 5 | 159315942 | 3 prime UTR variant | T/G | snv | 0.26 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
12 | 0.742 | 0.360 | 12 | 57108399 | intron variant | C/T | snv | 0.32 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
20 | 0.708 | 0.560 | 12 | 112489083 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 1.000 | 0.120 | 6 | 106142488 | intron variant | A/C | snv | 0.72 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
5 | 0.827 | 0.160 | 4 | 55089802 | missense variant | C/T | snv | 5.3E-04 | 4.1E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 0.882 | 0.120 | 6 | 33716536 | upstream gene variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 |