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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.807 | 0.200 | 11 | 92940662 | downstream gene variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.040 | 20 | 3079704 | downstream gene variant | A/C | snv | 0.62 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 20 | 3081340 | downstream gene variant | A/C | snv | 0.35 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.851 | 0.080 | 11 | 17395658 | missense variant | C/T | snv | 2.4E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 0.882 | 0.120 | 11 | 17395664 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.882 | 0.120 | 11 | 17453228 | missense variant | T/C | snv | 4.0E-05 | 4.9E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
1 | 1.000 | 0.040 | 11 | 17474926 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 2.0E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
48 | 0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
65 | 0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.080 | 3 | 186618566 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
116 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.040 | 20 | 3084303 | intron variant | C/T | snv | 0.60 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 20 | 3089925 | upstream gene variant | T/C | snv | 0.58 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 1 | 239907303 | intron variant | T/C | snv | 0.23 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
7 | 0.851 | 0.160 | 1 | 16044506 | frameshift variant | -/G | delins | 4.3E-06 | 5.6E-05 | 0.700 | 0 | ||||||
|
12 | 0.827 | 0.160 | 4 | 55457430 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
13 | 0.790 | 0.200 | 4 | 55460540 | intron variant | G/C | snv | 0.69 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
28 | 0.695 | 0.280 | 4 | 55435202 | 3 prime UTR variant | A/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.040 | 8 | 144096615 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 14 | 100728224 | intron variant | A/G | snv | 0.62 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.925 | 0.080 | 11 | 113436043 | intron variant | C/T | snv | 0.73 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 9 | 137711015 | missense variant | G/A | snv | 1.6E-04 | 9.1E-05 | 0.010 | < 0.001 | 1 | 2002 | 2002 | |||
|
2 | 0.925 | 0.080 | 9 | 137716697 | missense variant | G/A | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2002 | 2002 | ||||
|
3 | 0.925 | 0.080 | 14 | 89568628 | intron variant | G/A;C | snv | 0.010 | < 0.001 | 1 | 2018 | 2018 |