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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.827 | 0.200 | 1 | 21573781 | missense variant | T/C | snv | 7.2E-05 | 4.2E-05 | 0.810 | 1.000 | 10 | 1994 | 2014 | |||
|
1 | 1.000 | 0.080 | 1 | 21577439 | missense variant | G/A | snv | 0.800 | 1.000 | 4 | 1994 | 2001 | |||||
|
1 | 1.000 | 0.080 | 1 | 21573694 | missense variant | G/A;C | snv | 2.0E-05 | 0.800 | 1.000 | 4 | 1994 | 2001 | ||||
|
3 | 0.882 | 0.080 | 1 | 21575879 | missense variant | G/A | snv | 4.0E-06 | 0.710 | 1.000 | 8 | 1998 | 2013 | ||||
|
2 | 0.925 | 0.080 | 1 | 21577448 | missense variant | G/A;T | snv | 7.0E-06 | 0.710 | 1.000 | 5 | 1994 | 2002 | ||||
|
4 | 0.851 | 0.080 | 1 | 21563219 | missense variant | G/A;C | snv | 1.4E-04 | 0.700 | 1.000 | 11 | 1999 | 2018 | ||||
|
4 | 0.851 | 0.080 | 1 | 21575736 | missense variant | G/A | snv | 0.700 | 1.000 | 9 | 1993 | 2014 | |||||
|
2 | 0.925 | 0.080 | 1 | 21564118 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 | 0.700 | 1.000 | 9 | 1998 | 2015 | |||
|
3 | 0.882 | 0.080 | 1 | 21568122 | missense variant | C/T | snv | 8.0E-06 | 2.1E-05 | 0.700 | 1.000 | 9 | 1998 | 2013 | |||
|
2 | 0.925 | 0.080 | 1 | 21568123 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 0.700 | 1.000 | 7 | 2002 | 2014 | |||
|
4 | 0.851 | 0.160 | 1 | 21563212 | missense variant | AC/CA | mnv | 0.700 | 1.000 | 7 | 2002 | 2012 | |||||
|
3 | 0.882 | 0.080 | 1 | 21561126 | missense variant | C/A;T | snv | 0.700 | 1.000 | 6 | 1992 | 2017 | |||||
|
4 | 0.851 | 0.080 | 1 | 21575868 | missense variant | A/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 6 | 1992 | 2012 | |||
|
5 | 0.827 | 0.120 | 1 | 21576582 | missense variant | A/G | snv | 2.0E-05 | 5.6E-05 | 0.700 | 1.000 | 6 | 2001 | 2017 | |||
|
2 | 0.925 | 0.080 | 1 | 21564103 | missense variant | G/A | snv | 1.2E-05 | 0.700 | 1.000 | 5 | 1988 | 2012 | ||||
|
4 | 0.851 | 0.080 | 1 | 21564139 | missense variant | G/A;C | snv | 2.4E-03; 4.0E-06 | 0.700 | 1.000 | 5 | 1999 | 2009 | ||||
|
5 | 0.827 | 0.120 | 1 | 21563158 | missense variant | G/A | snv | 0.700 | 1.000 | 5 | 2000 | 2011 | |||||
|
3 | 0.882 | 0.160 | 1 | 21577436 | missense variant | G/A | snv | 4.5E-05 | 3.5E-05 | 0.700 | 1.000 | 5 | 2004 | 2016 | |||
|
2 | 0.925 | 0.080 | 1 | 21577632 | frameshift variant | T/- | del | 8.7E-06; 1.3E-05 | 0.700 | 1.000 | 5 | 1998 | 2010 | ||||
|
3 | 0.882 | 0.080 | 1 | 21577544 | missense variant | G/A | snv | 8.3E-06 | 2.1E-05 | 0.700 | 1.000 | 4 | 1998 | 2016 | |||
|
2 | 0.925 | 0.080 | 1 | 21564110 | missense variant | C/T | snv | 4.0E-05 | 7.0E-06 | 0.700 | 1.000 | 4 | 2001 | 2012 | |||
|
3 | 0.882 | 0.080 | 1 | 21575906 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 | 0.700 | 1.000 | 4 | 1999 | 2009 | |||
|
3 | 0.882 | 0.080 | 1 | 21564094 | missense variant | G/A;C | snv | 9.2E-05 | 0.700 | 1.000 | 3 | 2000 | 2009 | ||||
|
3 | 0.882 | 0.080 | 1 | 21570327 | missense variant | G/A;C;T | snv | 8.0E-06; 4.0E-06; 8.0E-06 | 0.700 | 1.000 | 3 | 2005 | 2017 | ||||
|
4 | 0.925 | 0.080 | 1 | 21573673 | missense variant | G/A | snv | 0.700 | 1.000 | 3 | 1998 | 2002 |