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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.882 | 0.040 | 1 | 156134464 | missense variant | A/G;T | snv | 0.720 | 1.000 | 18 | 1999 | 2012 | |||||
|
4 | 0.851 | 0.040 | 1 | 156130687 | missense variant | T/C | snv | 0.720 | 1.000 | 18 | 1999 | 2019 | |||||
|
2 | 0.925 | 0.040 | 1 | 156137191 | missense variant | G/A;C | snv | 8.6E-05 | 0.700 | 1.000 | 17 | 1999 | 2012 | ||||
|
2 | 0.925 | 0.040 | 1 | 156115192 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 17 | 1999 | 2012 | ||||
|
1 | 1.000 | 0.040 | 1 | 156115220 | missense variant | G/A;C;T | snv | 4.1E-06 | 0.700 | 1.000 | 17 | 1999 | 2012 | ||||
|
1 | 1.000 | 0.040 | 1 | 156134518 | missense variant | T/G | snv | 0.700 | 1.000 | 17 | 1999 | 2012 | |||||
|
1 | 1.000 | 0.040 | 1 | 156135916 | missense variant | G/A | snv | 1.6E-05 | 1.4E-05 | 0.700 | 1.000 | 17 | 1999 | 2012 | |||
|
2 | 1.000 | 0.040 | 1 | 156134497 | missense variant | A/G;T | snv | 0.800 | 1.000 | 17 | 1999 | 2012 | |||||
|
1 | 1.000 | 0.040 | 1 | 156136010 | missense variant | G/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 17 | 1999 | 2012 | ||||
|
1 | 1.000 | 0.040 | 1 | 156115207 | missense variant | A/G | snv | 0.700 | 1.000 | 17 | 1999 | 2012 | |||||
|
5 | 0.882 | 0.040 | 3 | 52451285 | missense variant | C/T | snv | 0.040 | 1.000 | 4 | 2007 | 2016 | |||||
|
5 | 0.851 | 0.040 | 15 | 63044030 | stop gained | G/A;C;T | snv | 4.0E-06 | 0.040 | 1.000 | 4 | 2005 | 2013 | ||||
|
4 | 0.882 | 0.040 | 15 | 63044072 | missense variant | G/A | snv | 0.040 | 1.000 | 4 | 2005 | 2017 | |||||
|
3 | 0.925 | 0.040 | 15 | 63043751 | missense variant | G/A | snv | 6.8E-06 | 0.040 | 1.000 | 4 | 2005 | 2017 | ||||
|
4 | 0.882 | 0.040 | 15 | 63044029 | frameshift variant | G/- | delins | 0.040 | 1.000 | 4 | 2005 | 2013 | |||||
|
4 | 0.882 | 0.040 | 1 | 16016759 | intron variant | T/C | snv | 0.62 | 0.030 | 1.000 | 3 | 2010 | 2016 | ||||
|
3 | 1.000 | 0.040 | 1 | 15972817 | intron variant | C/T | snv | 0.29 | 0.020 | 1.000 | 2 | 2011 | 2013 | ||||
|
6 | 0.851 | 0.040 | 15 | 63042874 | missense variant | G/A;T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2016 | 2017 | ||||
|
1 | 1.000 | 0.040 | 1 | 201365254 | missense variant | G/A;C | snv | 0.72 | 0.020 | 1.000 | 2 | 2013 | 2015 | ||||
|
2 | 0.925 | 0.040 | 1 | 201367856 | intron variant | C/A;G;T | snv | 1.8E-04; 0.42 | 0.020 | 1.000 | 2 | 2013 | 2014 | ||||
|
2 | 1.000 | 0.040 | 14 | 55136284 | intron variant | T/G | snv | 0.48 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 15 | 63059641 | splice region variant | C/A | snv | 0.67 | 0.65 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
4 | 0.925 | 0.040 | 6 | 118558946 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.040 | 11 | 47333605 | missense variant | G/A;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 7 | 123662780 | stop gained | G/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 |