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 | 0.925 | 0.120 | 9 | 110785664 | missense variant | T/A;C | snv | 4.0E-06; 1.6E-05 | 0.800 | 0 | |||||||
|
4 | 0.882 | 0.120 | 4 | 3493106 | frameshift variant | -/TGCC | delins | 0.700 | 1.000 | 11 | 1990 | 2014 | |||||
|
6 | 0.827 | 0.120 | 11 | 47448079 | missense variant | G/T | snv | 1.6E-03 | 1.5E-03 | 0.700 | 1.000 | 9 | 2002 | 2014 | |||
|
2 | 0.925 | 0.120 | 4 | 3493316 | frameshift variant | -/CTGG | delins | 0.700 | 1.000 | 7 | 2006 | 2012 | |||||
|
2 | 0.925 | 0.120 | 4 | 3489765 | frameshift variant | -/TCTC | delins | 0.700 | 1.000 | 5 | 2006 | 2014 | |||||
|
3 | 0.882 | 0.120 | 11 | 47449174 | upstream gene variant | T/C | snv | 2.1E-05 | 0.700 | 1.000 | 5 | 2003 | 2012 | ||||
|
2 | 0.925 | 0.120 | 4 | 3493243 | frameshift variant | C/-;CC | delins | 0.700 | 1.000 | 3 | 2006 | 2012 | |||||
|
2 | 0.925 | 0.120 | 4 | 3493119 | frameshift variant | -/G | delins | 0.700 | 1.000 | 3 | 2006 | 2012 | |||||
|
2 | 0.925 | 0.080 | 11 | 47448832 | missense variant | C/A;G;T | snv | 4.0E-06; 3.6E-05 | 0.700 | 1.000 | 2 | 2007 | 2009 | ||||
|
2 | 0.925 | 0.120 | 4 | 3493359 | frameshift variant | C/-;CC | delins | 0.700 | 1.000 | 2 | 2006 | 2008 | |||||
|
2 | 0.925 | 0.120 | 4 | 3476524 | missense variant | G/A | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.120 | 4 | 3476447 | missense variant | C/T | snv | 2.4E-05 | 2.8E-05 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 0.925 | 0.080 | 11 | 47447973 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 9 | 110800735 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 11 | 47441670 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.080 | 9 | 110687218 | missense variant | A/G | snv | 2.4E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 4 | 3492938 | frameshift variant | CCC/-;CC;CCCC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 9 | 110668943 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 19354536 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.080 | 11 | 47447859 | missense variant | C/T | snv | 2.4E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 0.925 | 0.120 | 2 | 108006095 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 |