| 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 | 0.080 | 1 | 23363066 | missense variant | A/G | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2008 | 2009 | ||||
|
1 | 1.000 | 0.080 | X | 154032226 | missense variant | A/C | snv | 0.720 | 1.000 | 2 | 1999 | 2018 | |||||
|
1 | 1.000 | 0.080 | 20 | 50082839 | missense variant | G/A | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2008 | 2009 | ||||
|
2 | 1.000 | 0.080 | X | 154031430 | missense variant | C/A;T | snv | 0.720 | 1.000 | 2 | 1999 | 2019 | |||||
|
2 | 0.882 | 0.080 | X | 154030903 | missense variant | G/A | snv | 0.720 | 1.000 | 2 | 2007 | 2016 | |||||
|
1 | 1.000 | 0.080 | 19 | 19891794 | missense variant | C/T | snv | 4.4E-05 | 1.4E-05 | 0.020 | 1.000 | 2 | 2008 | 2009 | |||
|
1 | 1.000 | 0.080 | 8 | 104014516 | missense variant | C/T | snv | 8.1E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 11 | 27658119 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 1.000 | 0.080 | 11 | 27658333 | missense variant | G/A | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 8 | 103885593 | missense variant | C/T | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 0.807 | 0.080 | X | 154031374 | missense variant | G/C | snv | 5.5E-06 | 1.9E-05 | 0.710 | 1.000 | 1 | 2009 | 2009 | |||
|
2 | 0.925 | 0.080 | X | 154030763 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | X | 154030643 | splice acceptor variant | TCTCGGGCTCAGGTGGAGGTGGGGGC/- | delins | 0.710 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | X | 154030662 | frameshift variant | GTGGGGG/-;G | delins | 6.4E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.882 | 0.080 | X | 154030665 | stop gained | GG/TA | mnv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.080 | X | 154031364 | missense variant | A/C;G | snv | 0.810 | 1.000 | 1 | 1999 | 2017 | |||||
|
1 | 1.000 | 0.080 | X | 154031226 | missense variant | G/A | snv | 1.4E-03 | 1.5E-03 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
1 | 1.000 | 0.080 | X | 154031445 | missense variant | T/G | snv | 0.710 | 1.000 | 1 | 1999 | 2017 | |||||
|
1 | 0.925 | 0.080 | X | 154031427 | missense variant | G/A;C | snv | 0.810 | 1.000 | 1 | 1988 | 2017 | |||||
|
1 | 1.000 | 0.080 | X | 154031406 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.080 | X | 154031220 | missense variant | G/A;T | snv | 7.5E-04 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 1.000 | 0.080 | X | 154031145 | missense variant | G/C | snv | 7.4E-04 | 2.9E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 0.925 | 0.080 | X | 154030939 | stop gained | G/A | snv | 0.710 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.080 | X | 154030799 | frameshift variant | C/-;CC | delins | 0.710 | 1.000 | 1 | 2012 | 2013 | |||||
|
2 | 0.925 | 0.080 | X | 154030798 | missense variant | G/A;C | snv | 3.8E-05 | 0.710 | 1.000 | 1 | 1999 | 2017 |