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 | 0.807 | 0.080 | 3 | 129528801 | missense variant | C/A | snv | 0.100 | 0.950 | 20 | 1992 | 2019 | |||||
|
6 | 0.807 | 0.160 | 3 | 129528783 | missense variant | C/T | snv | 7.0E-06 | 0.750 | 1.000 | 6 | 2014 | 2019 | ||||
|
2 | 0.925 | 0.080 | 3 | 129528999 | missense variant | G/A;C | snv | 0.710 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 0.882 | 0.080 | 3 | 129529049 | missense variant | G/A;T | snv | 1.6E-05 | 0.720 | 1.000 | 3 | 1999 | 2019 | ||||
|
2 | 0.925 | 0.080 | 3 | 129530918 | missense variant | G/A;T | snv | 8.0E-06 | 0.020 | 1.000 | 2 | 2004 | 2006 | ||||
|
7 | 0.807 | 0.160 | 3 | 129530917 | missense variant | C/T | snv | 0.730 | 1.000 | 4 | 2006 | 2019 | |||||
|
2 | 0.925 | 0.080 | 3 | 129532253 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.851 | 0.080 | 3 | 129532288 | missense variant | G/A;T | snv | 4.0E-06 | 0.720 | 1.000 | 3 | 1993 | 2013 | ||||
|
3 | 0.882 | 0.080 | 3 | 129532636 | missense variant | C/T | snv | 0.710 | 1.000 | 1 | 1997 | 1997 | |||||
|
2 | 0.925 | 0.080 | 3 | 129532581 | stop gained | G/A;T | snv | 4.0E-06; 2.0E-05 | 0.010 | 1.000 | 1 | 1993 | 1993 | ||||
|
3 | 0.882 | 0.080 | 3 | 129528777 | missense variant | A/G | snv | 0.710 | 1.000 | 1 | 1998 | 1998 | |||||
|
3 | 0.882 | 0.080 | 3 | 129529062 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
4 | 0.851 | 0.080 | 3 | 129529002 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
4 | 0.851 | 0.080 | 3 | 129530962 | missense variant | G/A;C | snv | 4.8E-05; 1.6E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.080 | 3 | 129531005 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 3 | 129531025 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 3 | 129532273 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.080 | 3 | 129532366 | missense variant | A/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 3 | 129528885 | missense variant | G/C | snv | 8.0E-04 | 2.9E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.080 | 3 | 129528816 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 3 | 129531023 | missense variant | C/G | snv | 0.700 | 1.000 | 1 | 2001 | 2001 | |||||
|
2 | 0.925 | 0.080 | 3 | 129530922 | stop gained | C/A;T | snv | 6.8E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 3 | 129528786 | missense variant | G/A;C | snv | 8.0E-05; 8.0E-06 | 0.710 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.080 | 3 | 129528906 | missense variant | C/G;T | snv | 9.1E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 3 | 129528891 | missense variant | C/G | snv | 0.700 | 1.000 | 1 | 1992 | 1992 |