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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
72 | 0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.080 | 7 | 6023402 | missense variant | A/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 8 | 100287609 | missense variant | C/T | snv | 2.0E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
151 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
2 | 0.925 | 0.200 | 19 | 36058791 | missense variant | G/T | snv | 6.6E-04 | 1.6E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
3 | 0.882 | 0.120 | 17 | 41586479 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
9 | 0.776 | 0.200 | 13 | 20189358 | missense variant | C/T | snv | 7.0E-06 | 0.010 | < 0.001 | 1 | 2005 | 2005 | ||||
|
3 | 0.882 | 0.120 | 12 | 52676314 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.120 | 17 | 40822119 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 0.882 | 0.160 | 11 | 88296207 | missense variant | C/G;T | snv | 1.6E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
38 | 0.627 | 0.480 | 3 | 9756778 | missense variant | C/T | snv | 1.2E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
2 | 0.925 | 0.200 | 19 | 36054999 | missense variant | G/C;T | snv | 7.3E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 1 | 34761665 | missense variant | C/A;T | snv | 1.7E-04 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
2 | 0.925 | 0.080 | 1 | 34761663 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.010 | 1.000 | 1 | 2006 | 2006 |