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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | X | 70445553 | stop gained | G/T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.080 | X | 153695191 | missense variant | G/A | snv | 1.4E-05 | 3.8E-05 | 0.010 | < 0.001 | 1 | 2004 | 2004 | |||
|
2 | 0.925 | 0.080 | X | 107905593 | missense variant | G/A | snv | 1.7E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | X | 123404763 | missense variant | G/A | snv | 2.7E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
2 | 0.925 | 0.080 | X | 54470182 | missense variant | G/A | snv | 3.1E-04 | 3.3E-04 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
23 | 0.732 | 0.280 | X | 154031409 | missense variant | G/A;T | snv | 5.5E-06 | 0.020 | 1.000 | 2 | 2002 | 2016 | ||||
|
9 | 0.776 | 0.200 | X | 154031431 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 1.000 | 0.080 | X | 153694800 | missense variant | A/G | snv | 1.6E-03 | 3.7E-04 | 0.010 | < 0.001 | 1 | 2004 | 2004 | |||
|
1 | 1.000 | 0.080 | X | 46472860 | stop gained | G/T | snv | 5.5E-06 | 9.5E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
2 | 0.925 | 0.080 | X | 123427954 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
6 | 0.827 | 0.200 | X | 54011232 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 0.925 | 0.080 | X | 40597269 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | X | 46501237 | stop gained | C/A | snv | 0.010 | 1.000 | 1 | 2006 | 2006 |