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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.160 | 5 | 112849696 | intron variant | A/C;G | snv | 0.020 | 1.000 | 2 | 2010 | 2013 | |||||
|
3 | 0.882 | 0.120 | 5 | 112819272 | missense variant | C/A;G;T | snv | 4.0E-06; 6.7E-04 | 0.700 | 1.000 | 20 | 1991 | 2017 | ||||
|
1 | 1.000 | 0.120 | 5 | 112839469 | missense variant | C/T | snv | 8.8E-05 | 1.0E-04 | 0.700 | 1.000 | 20 | 1991 | 2017 | |||
|
2 | 1.000 | 0.120 | 5 | 112839531 | missense variant | A/G | snv | 0.700 | 1.000 | 20 | 1991 | 2017 | |||||
|
9 | 0.807 | 0.120 | 5 | 112838399 | stop gained | C/A;G;T | snv | 4.7E-04 | 0.710 | 1.000 | 16 | 1992 | 2009 | ||||
|
14 | 0.742 | 0.200 | 5 | 112839515 | frameshift variant | AAAGA/- | delins | 0.710 | 1.000 | 13 | 1992 | 2018 | |||||
|
7 | 0.827 | 0.120 | 5 | 112792494 | stop gained | C/T | snv | 0.710 | 1.000 | 12 | 1992 | 2014 | |||||
|
1 | 1.000 | 0.120 | 5 | 112767263 | missense variant | C/A;T | snv | 4.0E-06; 3.9E-04 | 0.700 | 1.000 | 11 | 1991 | 2016 | ||||
|
7 | 0.827 | 0.120 | 5 | 112780895 | stop gained | C/G;T | snv | 0.700 | 1.000 | 10 | 1992 | 2016 | |||||
|
14 | 0.752 | 0.320 | 5 | 112841059 | missense variant | T/A;G | snv | 0.79 | 0.070 | 1.000 | 7 | 2001 | 2019 | ||||
|
10 | 0.807 | 0.120 | 5 | 112828889 | stop gained | C/T | snv | 0.700 | 1.000 | 6 | 1992 | 2011 | |||||
|
36 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 0.060 | 1.000 | 6 | 1998 | 2015 | |||||
|
42 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.060 | 1.000 | 6 | 1998 | 2015 | |||
|
3 | 0.925 | 0.120 | 5 | 112775632 | frameshift variant | AT/- | del | 0.700 | 1.000 | 6 | 1993 | 2013 | |||||
|
2 | 0.925 | 0.120 | 5 | 112834949 | splice acceptor variant | A/G;T | snv | 0.700 | 1.000 | 6 | 1997 | 2013 | |||||
|
17 | 0.732 | 0.200 | 5 | 112839543 | missense variant | G/C | snv | 4.4E-03 | 5.6E-03 | 0.040 | 1.000 | 4 | 2007 | 2015 | |||
|
2 | 1.000 | 0.120 | 5 | 112838138 | frameshift variant | TAGA/- | delins | 0.700 | 1.000 | 4 | 1994 | 2011 | |||||
|
5 | 0.882 | 0.120 | 5 | 112838774 | frameshift variant | ACAAA/- | delins | 0.700 | 1.000 | 4 | 1992 | 2013 | |||||
|
3 | 0.925 | 0.120 | 5 | 112841528 | frameshift variant | ACAA/- | delins | 0.700 | 1.000 | 4 | 1998 | 2016 | |||||
|
7 | 0.851 | 0.120 | 5 | 112840255 | frameshift variant | A/-;AA | delins | 0.700 | 1.000 | 4 | 2004 | 2012 | |||||
|
2 | 1.000 | 0.120 | 5 | 112827106 | splice acceptor variant | A/C;G;T | snv | 0.700 | 1.000 | 3 | 2004 | 2017 | |||||
|
3 | 0.925 | 0.120 | 5 | 112815554 | frameshift variant | CT/- | delins | 0.700 | 1.000 | 3 | 1994 | 2008 | |||||
|
5 | 0.827 | 0.200 | 5 | 112827951 | missense variant | G/A;C | snv | 3.2E-05 | 0.030 | 1.000 | 3 | 2003 | 2008 | ||||
|
3 | 0.925 | 0.120 | 5 | 112838880 | stop gained | C/T | snv | 0.700 | 1.000 | 3 | 1999 | 2009 | |||||
|
1 | 1.000 | 0.120 | 5 | 112792444 | splice acceptor variant | A/G;T | snv | 0.700 | 1.000 | 3 | 2010 | 2015 |