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 | 159724419 | intergenic variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
24 | 0.683 | 0.440 | 12 | 6333477 | missense variant | C/G;T | snv | 4.0E-06; 1.3E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
67 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 1 | 159705927 | upstream gene variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
19 | 0.695 | 0.440 | 12 | 68161231 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
6 | 0.851 | 0.240 | 12 | 6334161 | missense variant | A/C;G | snv | 1.6E-04; 4.8E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.925 | 0.080 | 9 | 133436943 | missense variant | C/T | snv | 5.8E-03 | 2.3E-03 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 12 | 6330859 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
36 | 0.633 | 0.720 | 4 | 153704257 | synonymous variant | T/C | snv | 9.0E-02 | 6.7E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
10 | 0.807 | 0.400 | 2 | 112913833 | missense variant | A/G | snv | 0.71 | 0.60 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 12 | 4372733 | non coding transcript exon variant | -/A;G | ins | 4.0E-06; 0.12; 4.0E-06; 4.0E-06 | 0.10 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 6 | 31271178 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
3 | 0.925 | 0.120 | 4 | 38797482 | synonymous variant | A/G | snv | 4.0E-06 | 2.1E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 4 | 55868434 | missense variant | G/A | snv | 2.8E-05 | 1.3E-04 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.925 | 0.160 | 9 | 101664982 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
8 | 0.827 | 0.200 | 1 | 53210729 | missense variant | T/G | snv | 2.3E-02 | 1.5E-02 | 0.020 | 1.000 | 2 | 2014 | 2014 | |||
|
5 | 0.925 | 0.120 | 12 | 6333180 | missense variant | A/G | snv | 0.64 | 0.71 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
12 | 0.752 | 0.400 | 6 | 31810495 | missense variant | G/A;C;T | snv | 0.87 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.851 | 0.160 | 20 | 38373117 | missense variant | T/C | snv | 9.2E-02 | 0.12 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 20 | 38310650 | splice region variant | G/C | snv | 9.4E-02 | 8.6E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
41 | 0.627 | 0.640 | 21 | 45537880 | missense variant | T/C;G | snv | 0.55; 4.4E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.925 | 0.040 | 13 | 95210754 | missense variant | C/A | snv | 4.9E-02 | 3.0E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1 | 247425398 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 |