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 | 0.120 | X | 50081723 | missense variant | T/G | snv | 0.800 | 1.000 | 14 | 1996 | 2011 | |||||
|
1 | 1.000 | 0.120 | X | 50090139 | missense variant | T/C | snv | 0.800 | 1.000 | 14 | 1996 | 2011 | |||||
|
2 | 0.925 | 0.120 | X | 50086035 | missense variant | G/T | snv | 0.800 | 1.000 | 14 | 1996 | 2011 | |||||
|
1 | 1.000 | 0.120 | X | 50090706 | missense variant | C/G | snv | 2.1E-04 | 1.0E-03 | 0.700 | 1.000 | 14 | 1996 | 2011 | |||
|
2 | 0.925 | 0.120 | X | 50072553 | missense variant | G/T | snv | 0.700 | 1.000 | 14 | 1996 | 2011 | |||||
|
2 | 0.925 | 0.120 | X | 50090220 | missense variant | T/G | snv | 0.700 | 1.000 | 14 | 1996 | 2011 | |||||
|
2 | 1.000 | 0.120 | X | 50090490 | stop gained | C/T | snv | 0.700 | 1.000 | 8 | 2001 | 2014 | |||||
|
1 | 1.000 | 0.120 | X | 50090678 | stop gained | C/A;T | snv | 0.700 | 1.000 | 6 | 1996 | 2009 | |||||
|
5 | 0.827 | 0.200 | X | 50085987 | missense variant | C/T | snv | 0.700 | 1.000 | 6 | 1996 | 2014 | |||||
|
1 | 1.000 | 0.120 | X | 50086562 | stop gained | C/T | snv | 0.700 | 1.000 | 6 | 1997 | 2014 | |||||
|
2 | 0.925 | 0.200 | X | 50070025 | stop gained | C/T | snv | 0.700 | 1.000 | 5 | 1998 | 2014 | |||||
|
1 | 1.000 | 0.120 | X | 50088749 | stop gained | C/T | snv | 0.700 | 1.000 | 5 | 2005 | 2009 | |||||
|
1 | 1.000 | 0.120 | X | 50090127 | missense variant | C/T | snv | 0.700 | 1.000 | 5 | 1997 | 2014 | |||||
|
1 | 1.000 | 0.120 | X | 50086359 | stop gained | G/A | snv | 0.700 | 1.000 | 4 | 1996 | 2014 | |||||
|
1 | 1.000 | 0.120 | X | 50092130 | stop gained | C/T | snv | 0.700 | 1.000 | 4 | 2003 | 2009 | |||||
|
1 | 1.000 | 0.120 | X | 50072517 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 1.000 | 0.120 | X | 50070007 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | X | 50086360 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 50075954 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 50088816 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 50086709 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 50086871 | splice donor variant | G/T | snv | 0.700 | 0 |