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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | X | 32485069 | missense variant | G/A | snv | 9.5E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.080 | 17 | 50195926 | synonymous variant | A/G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 0.925 | 0.080 | 11 | 68309770 | upstream gene variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.080 | X | 32386352 | missense variant | T/A | snv | 5.5E-06 | 1.9E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
3 | 0.925 | 0.080 | 13 | 42573888 | intron variant | T/C | snv | 0.47 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 1.000 | 0.080 | 17 | 50197009 | splice donor variant | C/G | snv | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.080 | 11 | 44107723 | missense variant | C/T | snv | 6.4E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 12 | 121184717 | missense variant | T/A | snv | 1.5E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.120 | 20 | 6770235 | missense variant | T/C;G | snv | 2.4E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
5 | 0.882 | 0.120 | 8 | 118911634 | regulatory region variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 0.925 | 0.120 | 3 | 193618885 | synonymous variant | G/A | snv | 2.8E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.851 | 0.120 | 17 | 50360241 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | 4 | 2831573 | missense variant | G/A;C | snv | 0.020 | 1.000 | 2 | 2012 | 2014 | |||||
|
4 | 0.925 | 0.160 | 7 | 94423065 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
8 | 0.807 | 0.160 | 20 | 6778468 | missense variant | A/G;T | snv | 0.67 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
4 | 0.851 | 0.160 | 11 | 68406721 | missense variant | G/A;C | snv | 3.8E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.160 | 15 | 51266534 | intron variant | G/A | snv | 0.44 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.160 | 13 | 33054001 | missense variant | T/A;G | snv | 0.14 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.851 | 0.160 | 11 | 46312636 | inframe deletion | AAG/- | delins | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.160 | X | 111681268 | missense variant | T/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.200 | 12 | 121175426 | missense variant | G/A | snv | 8.6E-03 | 1.1E-02 | 0.020 | 1.000 | 2 | 2012 | 2012 | |||
|
9 | 0.776 | 0.200 | 5 | 179836445 | missense variant | C/T | snv | 9.8E-04 | 1.3E-03 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
8 | 0.882 | 0.200 | 8 | 42472255 | stop gained | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.882 | 0.240 | 11 | 68357673 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.240 | 17 | 50193990 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 |