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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.790 | 0.080 | 3 | 38579416 | missense variant | G/A;T | snv | 1.6E-05; 5.9E-03 | 0.750 | 0.800 | 5 | 2006 | 2011 | ||||
|
3 | 0.882 | 0.120 | 3 | 38560394 | missense variant | G/T | snv | 0.710 | 1.000 | 1 | 2008 | 2009 | |||||
|
5 | 0.851 | 0.200 | 18 | 26866562 | intron variant | G/A | snv | 0.31 | 0.020 | 1.000 | 2 | 2010 | 2014 | ||||
|
2 | 0.925 | 0.080 | 18 | 907709 | missense variant | A/G | snv | 0.19 | 0.18 | 0.020 | 1.000 | 2 | 2009 | 2013 | |||
|
1 | 1.000 | 0.040 | 7 | 31082056 | intron variant | C/T | snv | 0.12 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.851 | 0.200 | 1 | 162115895 | intron variant | G/T | snv | 0.54 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.120 | 7 | 150947683 | frameshift variant | GG/T | delins | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
6 | 0.827 | 0.160 | 1 | 160041722 | missense variant | G/A | snv | 4.6E-02 | 4.7E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 1.000 | 0.040 | 3 | 8745627 | missense variant | C/G | snv | 1.4E-03 | 1.6E-03 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.040 | 1 | 111777204 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.040 | 1 | 160055093 | intron variant | T/C | snv | 0.41 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
102 | 0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
2 | 0.925 | 0.080 | 5 | 474952 | missense variant | A/G | snv | 4.2E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 1 | 160046674 | intron variant | C/A | snv | 0.13 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.120 | 1 | 75740094 | missense variant | G/A | snv | 4.0E-05 | 7.0E-05 | 0.010 | 1.000 | 1 | 1997 | 1997 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
1 | 1.000 | 0.040 | 3 | 38604872 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
13 | 0.724 | 0.240 | 6 | 156778678 | missense variant | C/G | snv | 2.1E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
2 | 0.925 | 0.080 | 5 | 474979 | missense variant | A/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 0.882 | 0.120 | 3 | 38581170 | missense variant | C/A;T | snv | 7.9E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
1 | 0.925 | 0.120 | 3 | 38550895 | missense variant | C/T | snv | 2.8E-05 | 1.7E-04 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
2 | 0.925 | 0.120 | 1 | 111776247 | missense variant | C/T | snv | 6.4E-05 | 5.6E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.040 | 1 | 160040361 | 3 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.040 | 16 | 28606164 | missense variant | C/G;T | snv | 8.1E-06; 0.98 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
17 | 0.724 | 0.280 | 7 | 150948446 | missense variant | T/A;C;G | snv | 1.3E-05; 0.18; 8.4E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 |