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 | X | 5894600 | intron variant | A/G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.040 | X | 5892533 | 3 prime UTR variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.040 | X | 6227814 | 5 prime UTR variant | C/G;T | snv | 0.30 | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | X | 5892715 | 3 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.040 | X | 5893158 | missense variant | G/A | snv | 1.1E-05 | 0.020 | 1.000 | 2 | 2011 | 2019 | ||||
|
2 | 1.000 | 0.040 | X | 5890820 | 3 prime UTR variant | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.040 | X | 5892258 | 3 prime UTR variant | G/A | snv | 0.15 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.040 | X | 5893491 | missense variant | G/A;C;T | snv | 7.6E-03 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.925 | 0.040 | X | 5893489 | synonymous variant | G/A;C;T | snv | 1.2E-05; 6.7E-03 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | X | 5892643 | 3 prime UTR variant | G/T | snv | 0.11 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | X | 5903545 | missense variant | T/C | snv | 3.0E-04 | 2.8E-04 | 0.010 | 1.000 | 1 | 2009 | 2009 |