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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.040 | 12 | 106419124 | intron variant | T/C | snv | 0.22 | 0.710 | 1.000 | 1 | 2015 | 2015 | ||||
|
11 | 0.763 | 0.200 | 8 | 129673211 | intron variant | T/G | snv | 0.17 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
24 | 0.683 | 0.440 | 9 | 22068653 | intron variant | G/A | snv | 0.64 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.882 | 0.040 | 7 | 55080369 | intron variant | AA/-;A;AAA;AAAA;AAAAAAAAAAA | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.882 | 0.040 | 8 | 129629675 | intron variant | A/G | snv | 0.18 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
16 | 0.716 | 0.320 | 8 | 47858141 | intron variant | C/A | snv | 0.66 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.882 | 0.040 | 5 | 1283640 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.040 | 13 | 107823165 | intron variant | C/T | snv | 0.38 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.040 | 5 | 81423306 | intron variant | C/T | snv | 0.22 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.040 | 16 | 6910689 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 0.925 | 0.040 | 7 | 55177954 | intron variant | T/C | snv | 0.24 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.882 | 0.040 | 7 | 54848587 | intergenic variant | T/C;G | snv | 0.700 | 1.000 | 3 | 2015 | 2018 | |||||
|
3 | 0.882 | 0.040 | 16 | 24578078 | intergenic variant | T/G | snv | 0.11 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.040 | X | 43632629 | intergenic variant | G/A | snv | 0.13 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
43 | 0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
16 | 0.742 | 0.360 | 10 | 87960957 | stop gained | A/G;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.925 | 0.040 | 2 | 47799866 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
96 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.100 | 0.969 | 32 | 2009 | 2020 | ||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.090 | 1.000 | 9 | 2011 | 2019 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.090 | 1.000 | 9 | 2011 | 2019 | |||||
|
42 | 0.614 | 0.280 | 15 | 90087472 | missense variant | C/T | snv | 2.0E-03 | 1.6E-03 | 0.080 | 0.875 | 8 | 2013 | 2020 | |||
|
40 | 0.627 | 0.400 | 17 | 7673751 | missense variant | C/A;G;T | snv | 1.6E-04 | 1.3E-04 | 0.080 | 0.875 | 8 | 2010 | 2016 | |||
|
28 | 0.683 | 0.080 | 1 | 226064434 | missense variant | A/T | snv | 0.050 | 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 | 0.040 | 1.000 | 4 | 2009 | 2018 |