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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.040 | 1 | 20645640 | missense variant | T/C | snv | 1.6E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
3 | 0.925 | 0.040 | 1 | 20649054 | stop gained | G/A | snv | 4.0E-06 | 1.4E-05 | 0.030 | 1.000 | 3 | 2006 | 2008 | |||
|
1 | 1 | 20649062 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
5 | 0.851 | 0.040 | 1 | 20649109 | stop gained | C/T | snv | 4.0E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
5 | 0.925 | 0.040 | 11 | 2167896 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 0.030 | 1.000 | 3 | 1996 | 1999 | |||
|
3 | 1.000 | 0.040 | 11 | 2167905 | missense variant | C/T | snv | 1.1E-04 | 1.4E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 11 | 233109 | missense variant | T/C | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 1.000 | 0.040 | 2 | 24793223 | missense variant | C/T | snv | 4.0E-06; 1.2E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 16 | 2498332 | missense variant | C/G;T | snv | 2.1E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 20 | 31484309 | missense variant | G/A;T | snv | 5.7E-06; 5.7E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 1.000 | 0.080 | 22 | 32478989 | missense variant | C/A;T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 22 | 32484019 | synonymous variant | A/G;T | snv | 3.4E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 0.925 | 0.080 | 22 | 32498453 | stop gained | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
11 | 0.807 | 0.080 | 21 | 32695106 | missense variant | C/T | snv | 1.2E-05 | 0.050 | 1.000 | 5 | 2013 | 2016 | ||||
|
5 | 0.925 | 0.080 | 22 | 38115667 | missense variant | G/A | snv | 9.0E-06 | 2.1E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
3 | 1.000 | 0.080 | 20 | 3910806 | missense variant | A/T | snv | 6.4E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
24 | 0.708 | 0.120 | 12 | 40310434 | missense variant | C/A;G;T | snv | 4.0E-06; 1.2E-05 | 0.030 | 1.000 | 3 | 2008 | 2014 | ||||
|
7 | 0.807 | 0.080 | 12 | 40310435 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.040 | 12 | 40310461 | missense variant | G/A | snv | 4.4E-05 | 7.7E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
7 | 0.827 | 0.120 | 12 | 40321114 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
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 | |||
|
78 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 0.100 | 0.958 | 24 | 2005 | 2020 | |||
|
15 | 0.742 | 0.120 | 12 | 40363526 | missense variant | G/A | snv | 1.7E-03 | 5.8E-04 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
2 | 1.000 | 0.040 | X | 43743818 | synonymous variant | G/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 1.000 | 0.040 | 17 | 44352387 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 |