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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.100 | 0.862 | 58 | 2003 | 2019 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.100 | 0.826 | 46 | 2003 | 2019 | ||||
|
36 | 0.645 | 0.480 | 11 | 27658414 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.050 | 0.600 | 5 | 2007 | 2019 | ||||
|
10 | 0.763 | 0.160 | 11 | 27659197 | 5 prime UTR variant | A/T | snv | 0.36 | 0.040 | 1.000 | 4 | 2009 | 2018 | ||||
|
9 | 0.827 | 0.160 | 11 | 27655494 | 3 prime UTR variant | C/G;T | snv | 0.030 | 0.667 | 3 | 2010 | 2013 | |||||
|
5 | 0.851 | 0.080 | 11 | 27700731 | 5 prime UTR variant | G/T | snv | 0.19 | 0.020 | 1.000 | 2 | 2013 | 2018 | ||||
|
1 | 1.000 | 0.040 | 11 | 27658191 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.882 | 0.040 | 11 | 27674363 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 0.925 | 0.120 | 11 | 27661764 | intron variant | C/T | snv | 0.12 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.925 | 0.040 | 11 | 27672444 | intron variant | C/G | snv | 0.73 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
7 | 0.827 | 0.120 | 11 | 27658550 | splice region variant | G/A | snv | 4.0E-06 | 2.1E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
6 | 0.827 | 0.120 | 11 | 27705368 | intron variant | A/G | snv | 0.49 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.120 | 11 | 27703198 | intron variant | C/G | snv | 0.83 | 0.010 | 1.000 | 1 | 2005 | 2005 |