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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.807 | 0.200 | X | 25012937 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
3 | 0.882 | 0.240 | 12 | 57569015 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
4 | 0.882 | 0.160 | 12 | 57569648 | missense variant | C/T | snv | 2.8E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
6 | 0.827 | 0.240 | 22 | 50080391 | missense variant | G/A | snv | 1.3E-04 | 6.3E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.200 | 2 | 148949891 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
5 | 0.851 | 0.240 | 2 | 86232711 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.925 | 0.080 | 19 | 35302594 | missense variant | A/C | snv | 2.3E-04 | 2.2E-04 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.925 | 0.080 | 19 | 35299590 | missense variant | C/T | snv | 3.7E-03 | 3.9E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.882 | 0.120 | X | 56565362 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
41 | 0.716 | 0.520 | 16 | 89546737 | missense variant | C/T | snv | 2.9E-03 | 3.5E-03 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
3 | 0.925 | 0.080 | 4 | 107947417 | stop gained | C/A;G;T | snv | 8.0E-06; 1.2E-05; 1.2E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.851 | 0.240 | 14 | 50628394 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
3 | 0.882 | 0.120 | 8 | 64596707 | missense variant | G/A;T | snv | 5.2E-04; 8.0E-06 | 0.700 | 1.000 | 5 | 2009 | 2014 | ||||
|
2 | 0.925 | 0.160 | 1 | 228149860 | upstream gene variant | A/G | snv | 0.700 | 1.000 | 5 | 2010 | 2014 | |||||
|
2 | 0.925 | 0.120 | 12 | 57567514 | missense variant | C/T | snv | 0.700 | 1.000 | 4 | 2009 | 2015 | |||||
|
2 | 0.925 | 0.120 | 8 | 64615194 | missense variant | T/C | snv | 2.8E-05 | 2.8E-05 | 0.700 | 1.000 | 4 | 2009 | 2014 | |||
|
4 | 0.851 | 0.200 | X | 153868866 | missense variant | C/T | snv | 0.700 | 1.000 | 3 | 1994 | 2002 | |||||
|
1 | 1.000 | 0.080 | 1 | 228157841 | frameshift variant | -/AC | delins | 0.700 | 1.000 | 3 | 2004 | 2010 | |||||
|
3 | 0.882 | 0.200 | 8 | 64604753 | stop gained | G/A | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 3 | 1998 | 2010 | |||
|
1 | 1.000 | 0.080 | 8 | 64624475 | stop gained | G/A | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 3 | 2009 | 2014 | |||
|
2 | 0.925 | 0.160 | 13 | 23332970 | stop gained | G/A | snv | 1.2E-05 | 1.4E-05 | 0.700 | 1.000 | 3 | 2008 | 2011 | |||
|
2 | 0.925 | 0.160 | 13 | 23340970 | frameshift variant | GTCT/- | delins | 7.0E-06 | 0.700 | 1.000 | 2 | 2010 | 2011 | ||||
|
1 | 1.000 | 0.080 | 1 | 228157899 | stop gained | C/G | snv | 0.700 | 1.000 | 2 | 2008 | 2010 | |||||
|
1 | 1.000 | 0.080 | 13 | 23332943 | frameshift variant | G/- | del | 0.700 | 1.000 | 2 | 2010 | 2011 | |||||
|
1 | 1.000 | 0.080 | X | 53224889 | start lost | T/C | snv | 0.700 | 1.000 | 2 | 2012 | 2015 |