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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
17 | 0.708 | 0.240 | 2 | 48962782 | missense variant | C/T | snv | 0.57 | 0.57 | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||
|
6 | 0.827 | 0.320 | 6 | 32658534 | upstream gene variant | T/C | snv | 0.47 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
7 | 0.790 | 0.320 | 6 | 32315077 | intron variant | A/G | snv | 0.14 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.160 | 2 | 1496155 | missense variant | A/C;G | snv | 0.43 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.040 | 3 | 119455829 | intron variant | A/G | snv | 0.45 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 8 | 109087904 | missense variant | T/A;C | snv | 4.0E-06; 8.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.160 | 1 | 16045636 | missense variant | T/C | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
42 | 0.605 | 0.600 | 6 | 43769749 | upstream gene variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
5 | 0.851 | 0.240 | 17 | 40075600 | intron variant | T/C;G | snv | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2008 | 2011 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.020 | 1.000 | 2 | 2008 | 2011 | |||||
|
4 | 0.851 | 0.160 | 8 | 133017916 | missense variant | C/A | snv | 4.4E-05 | 2.8E-05 | 0.020 | 1.000 | 2 | 2008 | 2009 | |||
|
22 | 0.695 | 0.400 | 14 | 80203237 | missense variant | T/C | snv | 0.41 | 0.39 | 0.050 | 1.000 | 5 | 2013 | 2019 | |||
|
5 | 0.851 | 0.040 | 2 | 1403856 | intron variant | C/T | snv | 0.40 | 0.700 | 1.000 | 3 | 2016 | 2019 | ||||
|
7 | 0.807 | 0.280 | 15 | 89326678 | frameshift variant | A/- | delins | 0.700 | 1.000 | 3 | 2010 | 2017 | |||||
|
11 | 0.763 | 0.160 | 10 | 99523573 | upstream gene variant | C/A;G | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||
|
1 | 1.000 | 0.040 | 6 | 165633546 | intron variant | A/G | snv | 0.32 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||
|
44 | 0.623 | 0.720 | 2 | 203874196 | downstream gene variant | G/A | snv | 0.37 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||
|
15 | 0.742 | 0.200 | 9 | 97793827 | intron variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2011 | 2012 | |||||
|
2 | 1.000 | 0.040 | 5 | 77247778 | intron variant | C/T | snv | 0.40 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 2 | 181238244 | splice region variant | G/A | snv | 0.35 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.040 | 6 | 43837765 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.040 | 7 | 4745498 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.851 | 0.040 | 8 | 118939661 | intron variant | A/C | snv | 0.37 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.080 | 19 | 4837545 | upstream gene variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 |