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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
96 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.800 | 0.977 | 43 | 2010 | 2020 | ||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.800 | 1.000 | 15 | 2011 | 2019 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.100 | 1.000 | 14 | 2011 | 2019 | |||||
|
28 | 0.683 | 0.080 | 1 | 226064434 | missense variant | A/T | snv | 0.080 | 1.000 | 8 | 2013 | 2018 | |||||
|
16 | 0.742 | 0.160 | 1 | 226064451 | missense variant | G/C | snv | 0.740 | 1.000 | 5 | 2013 | 2017 | |||||
|
78 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 0.740 | 1.000 | 5 | 2009 | 2018 | ||||
|
14 | 0.763 | 0.080 | 1 | 226064454 | missense variant | G/A | snv | 0.040 | 1.000 | 4 | 2013 | 2017 | |||||
|
17 | 0.742 | 0.080 | 6 | 27872233 | missense variant | T/A | snv | 0.030 | 1.000 | 3 | 2012 | 2018 | |||||
|
10 | 0.776 | 0.240 | 11 | 118606652 | 5 prime UTR variant | A/G;T | snv | 0.030 | 1.000 | 3 | 2011 | 2020 | |||||
|
21 | 0.701 | 0.360 | 20 | 63678486 | intron variant | A/C;G | snv | 0.030 | 1.000 | 3 | 2011 | 2020 | |||||
|
4 | 0.882 | 0.040 | 7 | 54848587 | intergenic variant | T/C;G | snv | 0.700 | 1.000 | 3 | 2015 | 2018 | |||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.020 | < 0.001 | 2 | 2005 | 2020 | ||||
|
28 | 0.662 | 0.560 | 17 | 7674229 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 0.710 | 1.000 | 2 | 2012 | 2016 | ||||
|
44 | 0.611 | 0.520 | 17 | 7673803 | missense variant | G/A;C;T | snv | 1.2E-05 | 0.710 | 1.000 | 2 | 2016 | 2018 | ||||
|
51 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 0.710 | 1.000 | 2 | 2011 | 2016 | |||||
|
19 | 0.716 | 0.160 | 7 | 106867593 | missense variant | T/G | snv | 8.4E-06 | 0.020 | 0.500 | 2 | 2007 | 2017 | ||||
|
7 | 0.807 | 0.080 | 7 | 55154129 | missense variant | C/A;T | snv | 0.710 | 1.000 | 2 | 2016 | 2018 | |||||
|
32 | 0.645 | 0.440 | 17 | 7674947 | missense variant | A/C;G;T | snv | 0.710 | 1.000 | 2 | 2009 | 2016 | |||||
|
4 | 0.851 | 0.040 | 6 | 30898095 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
71 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
59 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
73 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
73 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.882 | 0.120 | 5 | 68293310 | missense variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |