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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 6 | 43640526 | missense variant | G/A | snv | 1.0E-04 | 1.4E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
70 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
9 | 0.827 | 0.160 | 2 | 71570300 | missense variant | G/T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 2 | 171434679 | synonymous variant | C/T | snv | 7.4E-04 | 7.7E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
6 | 0.851 | 0.400 | 11 | 4023928 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
6 | 0.925 | 0.160 | 2 | 219421365 | missense variant | G/A;C | snv | 2.8E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.851 | 0.160 | 1 | 156115034 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
11 | 0.807 | 0.200 | 2 | 219420939 | missense variant | G/A;C;T | snv | 6.8E-05 | 0.710 | 1.000 | 1 | 2007 | 2007 | ||||
|
11 | 0.776 | 0.200 | 1 | 156136094 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 17 | 42562625 | start lost | G/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
3 | 1.000 | 0.080 | 6 | 38722964 | missense variant | A/T | snv | 8.2E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.925 | 0.080 | 5 | 70070651 | missense variant | C/T | snv | 1.3E-04 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
3 | 2 | 86144399 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
|
4 | 22 | 46235326 | missense variant | G/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
7 | 0.827 | 0.160 | 7 | 76302805 | synonymous variant | G/A | snv | 8.5E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
2 | 17 | 42562414 | start lost | G/A | snv | 1.6E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 1.000 | 0.040 | 22 | 38169424 | start lost | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 1.000 | 0.080 | 1 | 154173179 | missense variant | G/A | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.925 | 0.160 | 15 | 48468064 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
11 | 0.776 | 0.160 | 17 | 63957427 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 1994 | 1994 | |||||
|
19 | 0.732 | 0.360 | 11 | 17387917 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
45 | 0.708 | 0.440 | 19 | 1242559 | missense variant | C/T | snv | 6.7E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 1.000 | 0.040 | 2 | 232535143 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
6 | X | 32573812 | stop gained | C/A;G;T | snv | 5.5E-06; 5.5E-06 | 0.700 | 0 | |||||||||
|
29 | 0.752 | 0.320 | 22 | 30946373 | missense variant | G/A | snv | 0.700 | 0 |