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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.882 | 0.040 | 19 | 29702966 | missense variant | C/T | snv | 2.4E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
8 | 0.851 | 0.120 | 12 | 40340380 | missense variant | T/C | snv | 3.2E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 1.000 | 0.040 | 11 | 2164339 | missense variant | G/A | snv | 4.0E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
10 | 0.851 | 0.200 | 21 | 43774297 | stop gained | G/A | snv | 4.0E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
4 | 0.925 | 0.120 | 8 | 42838177 | missense variant | T/C | snv | 5.2E-05 | 5.6E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 1.000 | 0.200 | 2 | 72888457 | missense variant | A/G | snv | 5.6E-05 | 5.6E-05 | 0.700 | 1.000 | 5 | 2001 | 2013 | |||
|
3 | 0.925 | 0.040 | 11 | 2168614 | stop gained | G/A | snv | 6.2E-05 | 2.1E-05 | 0.700 | 1.000 | 3 | 2010 | 2017 | |||
|
2 | 8 | 42843038 | synonymous variant | G/A | snv | 7.6E-05 | 1.5E-04 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 1.000 | 0.200 | 2 | 72891502 | stop gained | A/T | snv | 8.0E-05 | 5.6E-05 | 0.700 | 1.000 | 1 | 2006 | 2006 | |||
|
6 | 0.882 | 0.080 | 9 | 129814108 | missense variant | C/T | snv | 9.1E-05 | 6.3E-05 | 0.030 | 1.000 | 3 | 2008 | 2014 | |||
|
3 | 1.000 | 0.040 | 2 | 178436264 | missense variant | G/A | snv | 9.9E-05 | 9.1E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 1.000 | 0.040 | 11 | 2167905 | missense variant | C/T | snv | 1.1E-04 | 1.4E-04 | 0.700 | 1.000 | 7 | 1998 | 2015 | |||
|
26 | 0.742 | 0.360 | 11 | 119081189 | missense variant | T/G | snv | 1.2E-04 | 5.6E-05 | 0.700 | 0 | ||||||
|
1 | 18 | 23534477 | missense variant | G/A;C | snv | 1.2E-04 | 0.700 | 0 | |||||||||
|
9 | 0.851 | 0.320 | 18 | 23536736 | missense variant | A/G | snv | 2.0E-04 | 2.4E-04 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
3 | 0.925 | 0.040 | 10 | 133366990 | missense variant | G/A | snv | 2.6E-04 | 1.3E-04 | 0.700 | 0 | ||||||
|
14 | 0.851 | 0.240 | 21 | 44531087 | stop gained | G/A | snv | 3.2E-04 | 2.7E-04 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 1.000 | 0.080 | 1 | 32893848 | missense variant | G/A | snv | 4.9E-04 | 7.0E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
7 | 0.925 | 0.040 | 19 | 29702747 | missense variant | T/C | snv | 2.3E-03 | 1.1E-03 | 0.710 | 1.000 | 1 | 2018 | 2018 | |||
|
97 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.030 | 0.667 | 3 | 2009 | 2015 | |||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2010 | 2010 |