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 | 11 | 17397296 | missense variant | G/A;T | snv | 4.4E-05 | 0.700 | 1.000 | 20 | 1996 | 2015 | ||||
|
1 | 1.000 | 0.120 | 11 | 17428630 | missense variant | G/A | snv | 6.9E-04 | 2.7E-03 | 0.700 | 1.000 | 20 | 1996 | 2015 | |||
|
1 | 1.000 | 0.120 | 11 | 17448596 | missense variant | A/G | snv | 6.9E-04 | 7.2E-04 | 0.700 | 1.000 | 20 | 1996 | 2015 | |||
|
1 | 1.000 | 0.120 | 11 | 17395214 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 20 | 1996 | 2015 | ||||
|
1 | 1.000 | 0.120 | 11 | 17395893 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 20 | 1996 | 2015 | ||||
|
1 | 1.000 | 0.120 | 11 | 17407407 | missense variant | G/A | snv | 0.700 | 1.000 | 20 | 1996 | 2015 | |||||
|
1 | 1.000 | 0.120 | 11 | 17430858 | missense variant | G/C | snv | 0.700 | 1.000 | 20 | 1996 | 2015 | |||||
|
1 | 1.000 | 0.120 | 11 | 17442827 | missense variant | A/G | snv | 0.700 | 1.000 | 20 | 1996 | 2015 | |||||
|
1 | 1.000 | 0.120 | 11 | 17448632 | missense variant | T/C | snv | 0.700 | 1.000 | 20 | 1996 | 2015 | |||||
|
1 | 1.000 | 0.120 | 11 | 17470167 | missense variant | C/G | snv | 0.700 | 1.000 | 20 | 1996 | 2015 | |||||
|
1 | 1.000 | 0.120 | 11 | 17410544 | missense variant | T/G | snv | 1.6E-05 | 2.1E-05 | 0.700 | 1.000 | 20 | 1996 | 2015 | |||
|
2 | 0.925 | 0.120 | 11 | 17395872 | missense variant | C/A;T | snv | 3.9E-05 | 0.700 | 1.000 | 20 | 1996 | 2015 | ||||
|
1 | 1.000 | 0.120 | 11 | 17460571 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 | 0.700 | 1.000 | 20 | 1996 | 2015 | |||
|
1 | 1.000 | 0.120 | 11 | 17395909 | missense variant | C/T | snv | 9.8E-06 | 0.700 | 1.000 | 20 | 1996 | 2015 | ||||
|
1 | 1.000 | 0.120 | 11 | 17476758 | missense variant | C/G;T | snv | 5.0E-06; 5.0E-06 | 0.700 | 1.000 | 20 | 1996 | 2015 | ||||
|
3 | 0.882 | 0.120 | 11 | 17397055 | missense variant | C/G;T | snv | 3.3E-04 | 0.700 | 1.000 | 16 | 1995 | 2014 | ||||
|
2 | 0.925 | 0.120 | 11 | 17395888 | inframe deletion | AAG/- | delins | 0.700 | 1.000 | 8 | 1996 | 2011 | |||||
|
1 | 1.000 | 0.120 | 11 | 17394333 | missense variant | C/A;T | snv | 8.0E-06 | 0.700 | 1.000 | 6 | 2003 | 2016 | ||||
|
1 | 1.000 | 0.120 | 11 | 17427963 | non coding transcript exon variant | C/T | snv | 2.0E-05 | 3.5E-05 | 0.700 | 1.000 | 6 | 2005 | 2016 | |||
|
2 | 0.925 | 0.120 | 11 | 17398344 | stop gained | G/A | snv | 1.4E-05 | 0.700 | 1.000 | 5 | 2006 | 2014 | ||||
|
1 | 1.000 | 0.120 | 11 | 17442774 | missense variant | G/A | snv | 1.6E-05 | 1.4E-05 | 0.700 | 1.000 | 5 | 2013 | 2016 | |||
|
2 | 0.925 | 0.120 | 11 | 17461722 | missense variant | C/T | snv | 0.700 | 1.000 | 5 | 2005 | 2013 | |||||
|
1 | 1.000 | 0.120 | 11 | 17428609 | frameshift variant | G/-;GG | delins | 0.700 | 1.000 | 4 | 2013 | 2014 | |||||
|
1 | 1.000 | 0.120 | 11 | 17442719 | splice donor variant | C/A;T | snv | 2.4E-05; 4.0E-06 | 0.700 | 1.000 | 4 | 1998 | 2015 | ||||
|
2 | 0.925 | 0.120 | 11 | 17402737 | frameshift variant | C/- | delins | 2.1E-05 | 0.700 | 1.000 | 3 | 2004 | 2008 |