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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
23 | 0.752 | 0.280 | 17 | 63957514 | missense variant | C/T | snv | 8.2E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
14 | 0.763 | 0.160 | 17 | 63964587 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
10 | 0.827 | 0.200 | 1 | 201077915 | missense variant | C/A;T | snv | 1.2E-05 | 0.750 | 1.000 | 5 | 1996 | 2014 | ||||
|
4 | 0.851 | 0.160 | 17 | 63959269 | missense variant | C/A;T | snv | 4.0E-06; 1.2E-05 | 0.720 | 1.000 | 2 | 2002 | 2004 | ||||
|
4 | 0.851 | 0.200 | 11 | 74457316 | missense variant | C/T | snv | 3.0E-03 | 3.8E-03 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
4 | 0.851 | 0.160 | 17 | 63959278 | missense variant | C/T | snv | 8.0E-06 | 0.710 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.160 | 17 | 63959270 | missense variant | G/A;C;T | snv | 0.710 | 1.000 | 1 | 2002 | 2002 | |||||
|
4 | 0.851 | 0.160 | 17 | 63947091 | missense variant | C/T | snv | 1.4E-05 | 0.700 | 0 | |||||||
|
5 | 0.882 | 0.200 | 1 | 201053539 | missense variant | G/A;C | snv | 0.720 | 1.000 | 2 | 2005 | 2007 | |||||
|
4 | 0.882 | 0.160 | X | 71223871 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
3 | 0.882 | 0.200 | 17 | 21703291 | missense variant | G/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.200 | 19 | 38499241 | missense variant | A/G | snv | 1.0E-03 | 1.0E-03 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
3 | 0.882 | 0.160 | 1 | 201083222 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.160 | 1 | 201077916 | missense variant | G/A;C | snv | 8.0E-06 | 0.740 | 1.000 | 4 | 2005 | 2015 | ||||
|
3 | 0.925 | 0.160 | 1 | 201053538 | missense variant | C/T | snv | 4.0E-06 | 0.720 | 1.000 | 2 | 1995 | 2007 | ||||
|
2 | 0.925 | 0.160 | 17 | 63945608 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
2 | 0.925 | 0.160 | 1 | 201065943 | missense variant | G/A;C | snv | 3.8E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.160 | 1 | 201066917 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
3 | 0.925 | 0.160 | 1 | 201066283 | missense variant | C/A | snv | 0.700 | 0 |