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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
43 | 0.658 | 0.640 | 1 | 152313385 | stop gained | G/A;T | snv | 9.4E-03; 8.0E-06 | 0.900 | 1.000 | 15 | 2006 | 2019 | ||||
|
5 | 0.827 | 0.200 | 1 | 152313454 | missense variant | G/A | snv | 0.27 | 0.19 | 0.040 | 1.000 | 4 | 2011 | 2015 | |||
|
7 | 0.790 | 0.200 | 1 | 152307547 | stop gained | G/A;C;T | snv | 2.8E-03; 4.0E-06; 1.6E-05 | 0.040 | 1.000 | 4 | 2009 | 2020 | ||||
|
5 | 0.827 | 0.160 | 1 | 152305146 | stop gained | G/A;C;T | snv | 3.6E-05; 4.0E-06; 1.5E-03 | 0.030 | 1.000 | 3 | 2010 | 2015 | ||||
|
4 | 0.882 | 0.120 | 1 | 152307225 | stop gained | G/C;T | snv | 2.0E-05 | 0.020 | 1.000 | 2 | 2007 | 2008 | ||||
|
4 | 0.851 | 0.120 | 1 | 152302822 | stop gained | T/A;C | snv | 1.4E-03; 8.0E-06 | 0.020 | 1.000 | 2 | 2015 | 2017 | ||||
|
2 | 0.925 | 0.120 | 1 | 152205542 | intron variant | C/G;T | snv | 0.020 | 0.500 | 2 | 2010 | 2013 | |||||
|
2 | 0.925 | 0.120 | 1 | 152286602 | intron variant | A/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.120 | 1 | 152313436 | missense variant | G/A;C;T | snv | 6.0E-04; 4.0E-06; 8.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.120 | 1 | 152312410 | stop gained | G/A;C | snv | 6.0E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.120 | 1 | 152350656 | stop gained | G/A;T | snv | 0.24 | 0.21 | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||
|
2 | 0.925 | 0.120 | 1 | 152310672 | stop gained | G/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | 1 | 152313145 | missense variant | T/A | snv | 7.8E-03 | 8.0E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 0.882 | 0.120 | 1 | 152304939 | stop gained | G/C;T | snv | 4.7E-04; 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.120 | 1 | 152354040 | missense variant | T/C | snv | 1.6E-02 | 6.1E-02 | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||
|
2 | 0.925 | 0.120 | 1 | 152310342 | stop gained | G/C;T | snv | 8.0E-06; 1.7E-04 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.851 | 0.280 | 1 | 152328341 | intron variant | G/A | snv | 0.29 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.120 | 1 | 152309046 | stop gained | C/G;T | snv | 4.0E-06; 2.2E-04 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | 1 | 152309045 | stop gained | C/A;T | snv | 4.0E-06; 2.8E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.120 | 1 | 152304999 | stop gained | G/T | snv | 3.2E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.851 | 0.200 | 1 | 152417976 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
8 | 0.851 | 0.160 | 1 | 152312601 | frameshift variant | ACTG/- | delins | 1.3E-02 | 0.700 | 1.000 | 1 | 2006 | 2006 |