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 | 0.040 | 6 | 161350139 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 6 | 162054149 | stop gained | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 6 | 162727661 | splice donor variant | C/A;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 6 | 161785778 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.040 | 21 | 32681590 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
15 | 0.763 | 0.200 | 16 | 50710713 | missense variant | C/A;T | snv | 4.0E-06; 0.19 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
24 | 0.708 | 0.120 | 12 | 40310434 | missense variant | C/A;G;T | snv | 4.0E-06; 1.2E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
78 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
11 | 0.807 | 0.080 | 21 | 32695106 | missense variant | C/T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
7 | 0.790 | 0.080 | 1 | 20644639 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 0.851 | 0.040 | 3 | 45722873 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.040 | 6 | 161548996 | missense variant | C/T | snv | 2.8E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 |