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 | 1 | 62528151 | splice region variant | C/T | snv | 0.700 | 1.000 | 2 | 2006 | 2014 | ||||||
|
2 | 1.000 | 3 | 9734167 | frameshift variant | TT/- | delins | 0.700 | 1.000 | 2 | 2017 | 2017 | ||||||
|
2 | 1.000 | X | 64919152 | frameshift variant | -/G | delins | 0.700 | 1.000 | 2 | 2013 | 2015 | ||||||
|
3 | 0.925 | 17 | 76733060 | frameshift variant | CACT/- | delins | 0.700 | 1.000 | 2 | 2014 | 2014 | ||||||
|
3 | 0.925 | 1 | 235470849 | splice donor variant | C/T | snv | 4.8E-05 | 1.4E-05 | 0.700 | 1.000 | 2 | 2013 | 2014 | ||||
|
3 | 1.000 | 3 | 9744394 | frameshift variant | C/-;CC;CCC | delins | 0.700 | 1.000 | 2 | 2017 | 2017 | ||||||
|
3 | 1.000 | X | 64921894 | stop gained | G/A | snv | 0.700 | 1.000 | 2 | 2013 | 2015 | ||||||
|
2 | 1.000 | 1 | 156868246 | missense variant | T/C | snv | 0.700 | 1.000 | 3 | 2012 | 2017 | ||||||
|
1 | 0.925 | 0.120 | 15 | 40729955 | missense variant | G/A | snv | 0.700 | 1.000 | 3 | 2014 | 2015 | |||||
|
3 | 0.925 | 6 | 26156815 | frameshift variant | -/G | delins | 0.700 | 1.000 | 3 | 2013 | 2017 | ||||||
|
2 | 1.000 | 8 | 1771146 | missense variant | G/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 3 | 2015 | 2017 | |||||
|
4 | 0.925 | 8 | 144360604 | missense variant | T/C | snv | 7.0E-05 | 7.7E-05 | 0.700 | 1.000 | 3 | 2012 | 2016 | ||||
|
2 | 1.000 | 1 | 156881446 | intron variant | G/A | snv | 0.700 | 1.000 | 3 | 2012 | 2017 | ||||||
|
1 | 1.000 | 3 | 122257279 | missense variant | C/A | snv | 0.700 | 1.000 | 3 | 2010 | 2017 | ||||||
|
2 | 1.000 | 6 | 133456594 | frameshift variant | A/- | del | 0.700 | 1.000 | 3 | 2005 | 2016 | ||||||
|
1 | 1.000 | 9 | 35793897 | splice acceptor variant | G/C | snv | 0.700 | 1.000 | 3 | 2004 | 2015 | ||||||
|
3 | 1.000 | 17 | 4533107 | frameshift variant | CC/T | delins | 0.700 | 1.000 | 3 | 2009 | 2017 | ||||||
|
1 | 1.000 | 19 | 42249327 | frameshift variant | G/- | delins | 0.700 | 1.000 | 3 | 2010 | 2017 | ||||||
|
3 | 0.925 | 0.120 | X | 134475194 | missense variant | G/C | snv | 0.700 | 1.000 | 3 | 2014 | 2015 | |||||
|
1 | 1.000 | 3 | 122261684 | missense variant | G/A;T | snv | 1.6E-05 | 0.700 | 1.000 | 3 | 2010 | 2017 | |||||
|
5 | 0.851 | 0.320 | 11 | 61393965 | missense variant | G/A;T | snv | 8.0E-06; 1.7E-04 | 0.700 | 1.000 | 3 | 2010 | 2015 | ||||
|
4 | 0.925 | 0.120 | 8 | 1771263 | missense variant | G/A | snv | 2.8E-05 | 1.4E-05 | 0.700 | 1.000 | 3 | 2015 | 2017 | |||
|
5 | 0.882 | 0.120 | 16 | 56484820 | stop gained | G/A | snv | 3.2E-05 | 1.4E-05 | 0.700 | 1.000 | 3 | 2007 | 2013 | |||
|
4 | 0.925 | 6 | 30724263 | missense variant | G/A | snv | 0.700 | 1.000 | 3 | 2012 | 2015 | ||||||
|
4 | 0.925 | 0.120 | 5 | 61544156 | missense variant | C/T | snv | 0.700 | 1.000 | 3 | 2014 | 2017 |