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 | 0.040 | 1.000 | 4 | 2009 | 2013 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.040 | 1.000 | 4 | 2009 | 2013 | ||||
|
1 | 9 | 128180461 | missense variant | G/A | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 1.000 | 18 | 11868596 | stop gained | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 1.000 | 0.040 | 18 | 8636322 | missense variant | A/G | snv | 3.3E-04 | 4.1E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 1.000 | 0.040 | 18 | 8636256 | missense variant | G/A | snv | 4.5E-04 | 1.7E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 9 | 129822779 | synonymous variant | G/A | snv | 0.22 | 0.23 | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||||
|
2 | 1.000 | 0.040 | 18 | 8636278 | missense variant | G/A | snv | 5.6E-05 | 4.9E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
6 | 0.882 | 0.120 | 9 | 129813148 | 3 prime UTR variant | C/- | del | 0.16 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
1 | 9 | 129822640 | missense variant | C/T | snv | 7.2E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 0.040 | 3 | 196068103 | missense variant | T/C | snv | 2.4E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 2 | 227491553 | synonymous variant | A/T | snv | 4.9E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 3 | 196062895 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 |