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 | 7 | 102273431 | missense variant | C/G | snv | 2.4E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 11 | 104944794 | missense variant | G/C | snv | 3.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
6 | 0.827 | 0.200 | 11 | 112088925 | synonymous variant | C/T | snv | 1.6E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
48 | 0.600 | 0.600 | 5 | 1293971 | synonymous variant | C/T | snv | 0.29 | 0.22 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
25 | 0.672 | 0.160 | 9 | 130872896 | missense variant | C/T | snv | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||
|
4 | 0.925 | 0.120 | 9 | 133734172 | start lost | A/G | snv | 5.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.100 | 1.000 | 11 | 2008 | 2019 | |||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.800 | 1.000 | 15 | 2002 | 2019 | ||||
|
20 | 0.763 | 0.480 | 7 | 140781617 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 1.000 | 0.080 | 1 | 161314406 | start lost | A/G | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 7 | 2000 | 2013 | |||
|
4 | 0.882 | 0.200 | 1 | 161314408 | start lost | G/A | snv | 0.700 | 1.000 | 2 | 2000 | 2012 | |||||
|
5 | 0.882 | 0.080 | 1 | 161323636 | stop gained | C/T | snv | 8.0E-06 | 2.1E-05 | 0.700 | 1.000 | 5 | 2008 | 2014 | |||
|
3 | 1.000 | 0.080 | 1 | 161328395 | splice acceptor variant | G/A;T | snv | 7.0E-06 | 0.700 | 1.000 | 2 | 2009 | 2014 | ||||
|
4 | 0.925 | 0.080 | 1 | 161328466 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 4 | 2009 | 2016 | ||||
|
2 | 1.000 | 0.080 | 1 | 161340629 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
8 | 0.882 | 0.080 | 1 | 161356832 | stop gained | C/T | snv | 3.6E-05 | 7.0E-06 | 0.700 | 1.000 | 7 | 2007 | 2016 | |||
|
2 | 1.000 | 0.080 | 1 | 161356840 | splice donor variant | G/- | delins | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.160 | 1 | 161356841 | splice donor variant | G/A;C;T | snv | 8.0E-06 | 0.700 | 1.000 | 6 | 2003 | 2014 | ||||
|
3 | 0.925 | 0.080 | 1 | 17018936 | frameshift variant | -/AGCT | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 17018938 | frameshift variant | -/C | ins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 1 | 17018943 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.080 | 1 | 17022648 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 | 0.700 | 1.000 | 6 | 2002 | 2015 | |||
|
5 | 0.882 | 0.080 | 1 | 17022649 | missense variant | G/A;T | snv | 0.700 | 1.000 | 10 | 1992 | 2013 | |||||
|
4 | 0.925 | 0.080 | 1 | 17022655 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.120 | 1 | 17022684 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 16 | 2003 | 2016 |