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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.120 | 1 | 75761161 | missense variant | A/C;G | snv | 3.3E-03 | 0.900 | 1.000 | 58 | 1990 | 2020 | ||||
|
1 | 1.000 | 0.080 | 1 | 75745823 | missense variant | G/A;T | snv | 1.6E-05 | 0.800 | 1.000 | 25 | 1990 | 2018 | ||||
|
1 | 1.000 | 0.080 | 1 | 75734833 | frameshift variant | AGTA/- | delins | 0.700 | 1.000 | 6 | 2004 | 2017 | |||||
|
2 | 0.925 | 0.080 | 1 | 75745904 | missense variant | T/A;C | snv | 4.0E-06; 8.0E-06 | 0.700 | 1.000 | 6 | 2001 | 2017 | ||||
|
1 | 1.000 | 0.080 | 1 | 75745788 | non coding transcript exon variant | G/A | snv | 2.5E-04 | 5.0E-04 | 0.700 | 1.000 | 5 | 2010 | 2017 | |||
|
1 | 1.000 | 0.080 | 1 | 75734827 | inframe deletion | AAG/- | delins | 0.700 | 1.000 | 5 | 2010 | 2017 | |||||
|
1 | 1.000 | 0.080 | 1 | 75762704 | missense variant | A/G;T | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2010 | 2017 | ||||
|
1 | 1.000 | 0.080 | 1 | 75732724 | missense variant | T/C | snv | 5.0E-04 | 7.1E-04 | 0.800 | 1.000 | 33 | 1990 | 2016 | |||
|
1 | 1.000 | 0.080 | 1 | 75732682 | missense variant | C/G;T | snv | 3.2E-05 | 0.700 | 1.000 | 8 | 1993 | 2016 | ||||
|
1 | 1.000 | 0.080 | 1 | 75761365 | missense variant | T/A | snv | 3.6E-05 | 0.700 | 1.000 | 4 | 2007 | 2016 | ||||
|
1 | 1.000 | 0.080 | 1 | 75740091 | missense variant | A/G | snv | 2.0E-05 | 0.700 | 1.000 | 4 | 2008 | 2016 | ||||
|
1 | 1.000 | 0.080 | 1 | 75749553 | missense variant | A/T | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 2005 | 2016 | ||||
|
1 | 1.000 | 0.080 | 1 | 75761366 | missense variant | A/C | snv | 0.700 | 1.000 | 3 | 2007 | 2016 | |||||
|
1 | 1.000 | 0.080 | 1 | 75762744 | missense variant | T/C | snv | 2.0E-05 | 5.6E-05 | 0.700 | 1.000 | 3 | 2010 | 2016 | |||
|
1 | 1.000 | 0.080 | 1 | 75749467 | missense variant | G/A | snv | 8.0E-06 | 2.1E-05 | 0.700 | 1.000 | 3 | 2010 | 2016 | |||
|
49 | 0.614 | 0.400 | 4 | 54733155 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
52 | 0.605 | 0.400 | 4 | 54733167 | missense variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 1 | 75732659 | missense variant | A/G | snv | 1.6E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 1 | 75749509 | missense variant | G/A | snv | 2.1E-04 | 1.3E-04 | 0.800 | 1.000 | 26 | 1990 | 2015 | |||
|
3 | 0.882 | 0.120 | 1 | 75740094 | missense variant | G/A | snv | 4.0E-05 | 7.0E-05 | 0.810 | 1.000 | 21 | 1990 | 2015 | |||
|
1 | 1.000 | 0.080 | 1 | 75734849 | frameshift variant | CTGA/- | delins | 0.700 | 1.000 | 4 | 2005 | 2015 | |||||
|
1 | 1.000 | 0.080 | 1 | 75733629 | splice donor variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2001 | 2015 | |||||
|
1 | 1.000 | 0.080 | 1 | 75749507 | missense variant | A/G | snv | 3.2E-04 | 1.7E-04 | 0.700 | 1.000 | 6 | 2005 | 2014 | |||
|
1 | 1.000 | 0.080 | 1 | 75745822 | missense variant | C/T | snv | 2.4E-05 | 1.4E-05 | 0.700 | 1.000 | 6 | 2005 | 2014 | |||
|
1 | 1.000 | 0.080 | 1 | 75761120 | splice acceptor variant | A/C | snv | 8.0E-06 | 0.700 | 1.000 | 3 | 2006 | 2014 |