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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.776 | 0.120 | X | 48792337 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 2000 | 2012 | |||||
|
6 | 0.827 | 0.120 | X | 48792377 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.925 | 0.120 | X | 48684284 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.882 | 0.120 | X | 154365245 | missense variant | C/A;G;T | snv | 3.1E-03 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.925 | 0.040 | X | 23001200 | missense variant | G/T | snv | 0.15 | 9.4E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
10 | 0.827 | 0.360 | X | 124365758 | splice region variant | C/G | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | X | 48794162 | stop lost | T/C | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.080 | 22 | 19723980 | stop gained | G/A;C | snv | 7.5E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
33 | 0.667 | 0.360 | 22 | 28695869 | frameshift variant | G/- | del | 2.0E-03 | 1.8E-03 | 0.700 | 0 | ||||||
|
11 | 0.882 | 0.200 | 22 | 36292059 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 21 | 34799310 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
5 | 0.851 | 0.120 | 21 | 34859485 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 0.120 | 21 | 34880665 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
1 | 21 | 34859476 | missense variant | C/T | snv | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.120 | 21 | 34859477 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.040 | 20 | 37403347 | missense variant | G/A | snv | 0.710 | 1.000 | 1 | 2019 | 2019 | |||||
|
9 | 0.776 | 0.280 | 19 | 7747650 | upstream gene variant | A/G;T | snv | 0.66 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.851 | 0.240 | 19 | 7748382 | upstream gene variant | A/G | snv | 0.26 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 1.000 | 0.080 | 17 | 4933367 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.851 | 0.080 | 17 | 4933119 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 17 | 1869979 | intron variant | G/A | snv | 0.24 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 0.925 | 0.120 | 17 | 47307567 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
11 | 0.752 | 0.440 | 17 | 78364457 | intron variant | A/C;G | snv | 0.54 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.160 | 17 | 4933521 | missense variant | G/A | snv | 2.4E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
4 | 0.882 | 0.080 | 17 | 44372408 | missense variant | G/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 |