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 | 0.040 | 14 | 54865379 | missense variant | T/A | snv | 0.800 | 1.000 | 16 | 1994 | 2011 | |||||
|
1 | 1.000 | 0.040 | 14 | 54845792 | missense variant | C/T | snv | 0.800 | 1.000 | 16 | 1994 | 2011 | |||||
|
1 | 1.000 | 0.040 | 14 | 54865349 | missense variant | T/G | snv | 0.800 | 1.000 | 16 | 1994 | 2011 | |||||
|
1 | 1.000 | 0.040 | 14 | 54865376 | missense variant | A/T | snv | 0.800 | 1.000 | 16 | 1994 | 2011 | |||||
|
1 | 1.000 | 0.040 | 14 | 54844133 | missense variant | T/C | snv | 7.0E-06 | 0.700 | 1.000 | 15 | 1994 | 2006 | ||||
|
1 | 1.000 | 0.040 | 14 | 54902321 | missense variant | C/T | snv | 0.700 | 1.000 | 15 | 1994 | 2006 | |||||
|
2 | 0.925 | 0.120 | 14 | 54845787 | missense variant | C/T | snv | 0.800 | 1.000 | 9 | 1996 | 2013 | |||||
|
3 | 0.882 | 0.120 | 14 | 54902341 | missense variant | C/T | snv | 0.700 | 1.000 | 4 | 1998 | 2008 | |||||
|
2 | 0.925 | 0.120 | 14 | 54845767 | splice donor variant | C/A;T | snv | 0.700 | 1.000 | 3 | 1998 | 2009 | |||||
|
2 | 0.925 | 0.120 | 14 | 54845843 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2004 | 2019 | |||||
|
2 | 0.925 | 0.120 | 14 | 54865437 | splice acceptor variant | C/G;T | snv | 0.700 | 1.000 | 2 | 1996 | 2009 | |||||
|
2 | 0.925 | 0.120 | 14 | 54902383 | missense variant | G/T | snv | 0.700 | 1.000 | 2 | 1999 | 2005 | |||||
|
1 | 1.000 | 0.040 | 14 | 54902661 | start lost | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 14 | 54902522 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 14 | 54844049 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 14 | 54847098 | splice donor variant | C/A;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 14 | 54902385 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 14 | 54902467 | frameshift variant | AGCTCGTTATCC/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 14 | 54902663 | start lost | T/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 14 | 54902441 | frameshift variant | AGGC/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 14 | 54845780 | missense variant | A/C;T | snv | 4.0E-06 | 0.700 | 1.000 | 3 | 1999 | 2011 | ||||
|
3 | 1.000 | 0.040 | 14 | 54844023 | missense variant | C/G | snv | 4.0E-06 | 0.700 | 1.000 | 15 | 1994 | 2006 | ||||
|
1 | 1.000 | 0.040 | 14 | 54902402 | missense variant | G/A;C;T | snv | 4.0E-06; 8.0E-06 | 0.800 | 1.000 | 16 | 1994 | 2011 | ||||
|
1 | 1.000 | 0.040 | 2 | 200893297 | missense variant | C/T | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 11 | 2167444 | missense variant | A/G | snv | 5.8E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 |