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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 0.776 | 0.160 | 17 | 63957427 | missense variant | G/A | snv | 0.850 | 1.000 | 15 | 1991 | 2019 | |||||
|
13 | 0.742 | 0.240 | 17 | 63941508 | missense variant | T/C | snv | 0.820 | 1.000 | 13 | 1991 | 2014 | |||||
|
23 | 0.752 | 0.280 | 17 | 63957514 | missense variant | C/T | snv | 8.2E-06 | 1.4E-05 | 0.800 | 1.000 | 10 | 2004 | 2015 | |||
|
2 | 0.925 | 0.160 | 17 | 63957515 | missense variant | G/A;C | snv | 1.2E-05 | 0.800 | 1.000 | 6 | 2004 | 2012 | ||||
|
9 | 0.790 | 0.200 | 17 | 63945614 | missense variant | C/A;T | snv | 1.6E-05; 5.6E-05 | 0.800 | 1.000 | 5 | 1991 | 2010 | ||||
|
3 | 0.882 | 0.160 | 17 | 63957460 | missense variant | A/G | snv | 0.710 | 1.000 | 7 | 1989 | 2017 | |||||
|
7 | 0.827 | 0.160 | 17 | 63943846 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 19 | 1992 | 2017 | ||||
|
7 | 0.790 | 0.160 | 17 | 63943825 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 15 | 1992 | 2015 | ||||
|
4 | 0.851 | 0.160 | 17 | 63959269 | missense variant | C/A;T | snv | 4.0E-06; 1.2E-05 | 0.700 | 1.000 | 15 | 2000 | 2015 | ||||
|
4 | 0.851 | 0.160 | 17 | 63959270 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 14 | 2000 | 2015 | |||||
|
5 | 0.851 | 0.160 | 17 | 63941939 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 12 | 1992 | 2017 | |||||
|
14 | 0.763 | 0.160 | 17 | 63964587 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 9 | 1997 | 2015 | ||||
|
3 | 0.882 | 0.160 | 17 | 63941940 | missense variant | G/A;T | snv | 0.700 | 1.000 | 7 | 1992 | 2011 | |||||
|
4 | 0.851 | 0.160 | 17 | 63941517 | missense variant | C/T | snv | 0.700 | 1.000 | 7 | 1993 | 2015 | |||||
|
4 | 0.851 | 0.160 | 17 | 63959278 | missense variant | C/T | snv | 8.0E-06 | 0.700 | 1.000 | 7 | 1999 | 2014 | ||||
|
3 | 0.882 | 0.160 | 17 | 63944708 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 6 | 1995 | 2016 | ||||
|
7 | 0.790 | 0.160 | 17 | 63971201 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 4 | 2009 | 2018 | ||||
|
2 | 0.925 | 0.160 | 17 | 63947100 | missense variant | C/G;T | snv | 8.4E-05 | 0.700 | 1.000 | 4 | 2004 | 2010 | ||||
|
4 | 0.851 | 0.160 | 17 | 63947091 | missense variant | C/T | snv | 1.4E-05 | 0.700 | 1.000 | 4 | 2006 | 2011 | ||||
|
2 | 0.925 | 0.160 | 17 | 63941984 | missense variant | A/C | snv | 0.700 | 1.000 | 3 | 1991 | 2009 | |||||
|
3 | 0.882 | 0.160 | 17 | 63947082 | missense variant | C/T | snv | 0.700 | 1.000 | 3 | 2009 | 2014 | |||||
|
2 | 0.925 | 0.160 | 17 | 63941982 | missense variant | A/G | snv | 0.700 | 1.000 | 2 | 2013 | 2017 | |||||
|
2 | 0.925 | 0.160 | 17 | 63964600 | missense variant | A/C | snv | 0.700 | 1.000 | 2 | 2011 | 2012 | |||||
|
2 | 0.925 | 0.160 | 17 | 63941840 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 0.925 | 0.160 | 17 | 63957473 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2002 | 2002 |