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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
78 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 0.100 | 1.000 | 10 | 2005 | 2015 | |||
|
59 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.070 | 1.000 | 7 | 1998 | 2018 | |||||
|
9 | 0.776 | 0.160 | 16 | 46662452 | missense variant | C/T | snv | 0.060 | 1.000 | 6 | 2012 | 2014 | |||||
|
21 | 0.732 | 0.160 | 4 | 89835580 | missense variant | C/G | snv | 0.030 | 1.000 | 3 | 1999 | 2006 | |||||
|
15 | 0.742 | 0.120 | 12 | 40363526 | missense variant | G/A | snv | 1.7E-03 | 5.8E-04 | 0.030 | 1.000 | 3 | 2006 | 2009 | |||
|
13 | 0.742 | 0.120 | 4 | 89828170 | missense variant | C/T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2006 | 2015 | ||||
|
9 | 0.763 | 0.120 | 12 | 40340404 | missense variant | T/C | snv | 0.020 | 1.000 | 2 | 2009 | 2009 | |||||
|
6 | 0.827 | 0.080 | 3 | 132477995 | missense variant | A/G | snv | 4.2E-06 | 3.5E-05 | 0.020 | 1.000 | 2 | 2015 | 2015 | |||
|
1 | 1.000 | 0.040 | 7 | 56106422 | 5 prime UTR variant | A/C;T | snv | 0.80; 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 12 | 40240543 | missense variant | C/A;T | snv | 4.0E-06; 1.7E-04 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.040 | 17 | 28357365 | frameshift variant | C/-;CC | delins | 6.2E-06; 1.00 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
6 | 0.925 | 0.040 | 12 | 119869138 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 11 | 111913790 | synonymous variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.040 | 4 | 89822353 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
6 | 0.807 | 0.120 | 7 | 56106409 | missense variant | G/A | snv | 9.3E-03 | 7.5E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.040 | 2 | 176093519 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 1.000 | 0.040 | 12 | 40319998 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 0.925 | 0.040 | 12 | 40323270 | stop gained | G/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
9 | 0.776 | 0.160 | 12 | 40320043 | missense variant | G/A;C;T | snv | 1.6E-04; 1.9E-03; 8.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.080 | 4 | 89725735 | 3 prime UTR variant | G/A | snv | 0.54 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
10 | 0.790 | 0.160 | 4 | 41257616 | missense variant | C/A | snv | 0.24 | 0.16 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
1 | 1.000 | 0.040 | 17 | 28357365 | frameshift variant | C/-;CC | delins | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
5 | 0.827 | 0.040 | 3 | 184322862 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 12 | 40263875 | missense variant | A/G | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
4 | 0.851 | 0.040 | 7 | 56104344 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 |