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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.120 | 3 | 186854303 | missense variant | C/T | snv | 4.0E-06; 1.2E-05 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.160 | 6 | 43770758 | missense variant | C/G;T | snv | 2.0E-05; 9.8E-06 | 0.010 | < 0.001 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.080 | 3 | 186854630 | missense variant | C/A;T | snv | 2.1E-04; 8.0E-06 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 10 | 69382629 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2002 | 2002 | |||
|
3 | 0.882 | 0.240 | 14 | 102229508 | missense variant | A/G | snv | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||||
|
2 | 1.000 | 0.080 | 19 | 11240198 | stop gained | C/G;T | snv | 6.3E-04 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 3 | 183961651 | missense variant | G/C | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 17 | 42564085 | synonymous variant | C/A;G;T | snv | 1.7E-04; 1.6E-03 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 1 | 161739329 | downstream gene variant | C/T | snv | 0.69 | 0.010 | < 0.001 | 1 | 2006 | 2006 | ||||
|
5 | 0.827 | 0.320 | 19 | 47341767 | missense variant | G/A;C;T | snv | 4.0E-06; 9.6E-05 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
21 | 0.827 | 0.120 | 16 | 53769662 | intron variant | T/A | snv | 0.31 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 20 | 50581317 | missense variant | G/A | snv | 1.7E-03 | 1.6E-03 | 0.010 | < 0.001 | 1 | 2002 | 2002 | |||
|
16 | 0.807 | 0.320 | 11 | 61842278 | intron variant | C/T | snv | 0.35 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.080 | 1 | 32869438 | intron variant | G/A;T | snv | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.120 | 10 | 117945927 | intergenic variant | C/T | snv | 0.45 | 0.010 | < 0.001 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.080 | 6 | 170287611 | intron variant | C/T | snv | 0.85 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 2 | 177248756 | intron variant | A/G;T | snv | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.120 | 11 | 73975612 | missense variant | C/T | snv | 8.0E-05 | 4.9E-05 | 0.010 | < 0.001 | 1 | 1998 | 1998 | |||
|
2 | 0.925 | 0.080 | 20 | 44419772 | missense variant | G/A;T | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
10 | 0.752 | 0.320 | 22 | 41152004 | missense variant | A/G | snv | 0.31 | 0.23 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
18 | 0.716 | 0.400 | 16 | 50729868 | frameshift variant | C/-;CC | delins | 1.5E-02 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.120 | 22 | 43936773 | intron variant | C/G | snv | 0.20 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
15 | 0.752 | 0.400 | 11 | 116790676 | missense variant | C/A;T | snv | 6.4E-03; 4.0E-06 | 0.010 | < 0.001 | 1 | 2006 | 2006 | ||||
|
14 | 0.763 | 0.360 | 2 | 88124547 | missense variant | T/C | snv | 0.30 | 0.29 | 0.010 | < 0.001 | 1 | 2007 | 2007 | |||
|
61 | 0.570 | 0.760 | 5 | 132673462 | upstream gene variant | C/T | snv | 0.35 | 0.010 | < 0.001 | 1 | 2018 | 2018 |