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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.100 | 0.868 | 38 | 2004 | 2019 | ||||
|
36 | 0.645 | 0.480 | 11 | 27658414 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.060 | 0.833 | 6 | 2005 | 2014 | ||||
|
1 | 1.000 | 0.080 | 11 | 27658340 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 0.925 | 0.080 | 11 | 27658085 | synonymous variant | C/A;T | snv | 4.0E-06; 4.4E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
23 | 0.716 | 0.280 | 11 | 27658285 | missense variant | C/A;T | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.080 | 11 | 27658370 | synonymous variant | G/A | snv | 4.0E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
7 | 0.827 | 0.120 | 11 | 27658550 | splice region variant | G/A | snv | 4.0E-06 | 2.1E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
6 | 0.851 | 0.120 | 11 | 27700188 | 5 prime UTR variant | G/A | snv | 5.9E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.100 | 0.889 | 45 | 2004 | 2019 | |||
|
6 | 0.827 | 0.120 | 11 | 27705368 | intron variant | A/G | snv | 0.49 | 0.020 | 0.500 | 2 | 2014 | 2017 |