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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.851 | 0.120 | 4 | 1002747 | stop gained | G/A | snv | 5.9E-04 | 8.4E-04 | 0.740 | 1.000 | 17 | 1992 | 2016 | |||
|
6 | 0.827 | 0.280 | 4 | 987858 | stop gained | C/T | snv | 4.7E-04 | 6.1E-04 | 0.730 | 1.000 | 17 | 1992 | 2014 | |||
|
7 | 0.807 | 0.320 | 4 | 1003418 | missense variant | C/G;T | snv | 5.6E-05 | 0.730 | 1.000 | 12 | 1992 | 2016 | ||||
|
2 | 0.925 | 0.120 | 4 | 987915 | missense variant | C/T | snv | 1.4E-05 | 0.710 | 1.000 | 8 | 1995 | 2014 | ||||
|
2 | 0.925 | 0.120 | 4 | 1002275 | missense variant | G/C | snv | 6.6E-05 | 7.7E-05 | 0.700 | 1.000 | 10 | 1995 | 2014 | |||
|
2 | 0.925 | 0.120 | 4 | 1000880 | splice acceptor variant | A/G | snv | 3.6E-05 | 1.4E-05 | 0.700 | 1.000 | 7 | 1994 | 2017 | |||
|
1 | 1.000 | 0.120 | 4 | 987119 | inframe insertion | TCGCTCCTGGCC/-;TCGCTCCTGGCCTCGCTCCTGGCC | delins | 4.9E-05 | 0.700 | 1.000 | 6 | 1994 | 2012 | ||||
|
2 | 0.925 | 0.120 | 4 | 1002063 | protein altering variant | -/CCCCCATTTACA | delins | 9.5E-06 | 7.0E-06 | 0.700 | 1.000 | 5 | 1998 | 2013 | |||
|
2 | 0.925 | 0.120 | 4 | 987236 | missense variant | G/A | snv | 9.2E-06 | 1.4E-05 | 0.700 | 1.000 | 5 | 1994 | 2011 | |||
|
4 | 0.851 | 0.120 | 4 | 987916 | missense variant | G/A | snv | 9.2E-06 | 7.0E-06 | 0.700 | 1.000 | 4 | 1996 | 2012 | |||
|
3 | 0.882 | 0.120 | 4 | 1002387 | missense variant | C/T | snv | 0.700 | 1.000 | 4 | 1997 | 2011 | |||||
|
2 | 0.925 | 0.120 | 4 | 1002752 | stop gained | G/C;T | snv | 0.700 | 1.000 | 3 | 1995 | 2014 | |||||
|
4 | 0.882 | 0.120 | 4 | 1001802 | missense variant | T/A;G | snv | 2.2E-05; 4.4E-06 | 0.700 | 1.000 | 3 | 2004 | 2014 | ||||
|
3 | 0.882 | 0.120 | 4 | 1002340 | missense variant | C/G | snv | 4.0E-06 | 0.700 | 1.000 | 3 | 2011 | 2014 | ||||
|
2 | 0.925 | 0.120 | 4 | 1001700 | frameshift variant | -/TGCTC | delins | 0.700 | 1.000 | 3 | 1996 | 2017 | |||||
|
2 | 0.925 | 0.120 | 4 | 1004292 | stop gained | C/G;T | snv | 2.8E-04; 2.8E-05 | 0.700 | 1.000 | 2 | 1994 | 2013 | ||||
|
1 | 1.000 | 0.120 | 4 | 987243 | splice donor variant | G/A | snv | 9.0E-06 | 0.700 | 1.000 | 2 | 2001 | 2012 | ||||
|
2 | 0.925 | 0.120 | 4 | 1002946 | splice donor variant | T/G | snv | 0.700 | 1.000 | 2 | 2001 | 2012 | |||||
|
3 | 0.882 | 0.120 | 4 | 1003120 | missense variant | C/G;T | snv | 1.4E-05 | 0.700 | 1.000 | 2 | 2001 | 2011 | ||||
|
3 | 0.882 | 0.120 | 4 | 1004286 | stop gained | C/A;G;T | snv | 4.0E-06; 8.1E-06 | 0.700 | 1.000 | 1 | 2001 | 2001 | ||||
|
2 | 0.925 | 0.120 | 4 | 1004321 | frameshift variant | C/- | delins | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.120 | 4 | 1004083 | frameshift variant | C/- | del | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.882 | 0.120 | 4 | 1001672 | splice region variant | G/A;C | snv | 4.3E-06 | 0.700 | 1.000 | 1 | 1993 | 1993 | ||||
|
1 | 1.000 | 0.120 | 4 | 1002065 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 4 | 1004391 | stop lost | T/G | snv | 0.700 | 0 |