Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.080 | X | 67723707 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
X | 15358134 | missense variant | C/A | snv | 5.5E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.080 | X | 67711662 | missense variant | G/A | snv | 9.5E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.827 | 0.080 | X | 67723710 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||||
|
X | 81277164 | missense variant | C/T | snv | 1.7E-05 | 9.5E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.200 | X | 67711621 | missense variant | T/A | snv |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||||
|
0.851 | 0.080 | X | 67545492 | missense variant | C/A;T | snv | 6.6E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 |
|
0.020 | 0.500 | 2 | 2016 | 2019 | ||||||||
|
0.925 | 0.080 | 22 | 30940834 | missense variant | C/T | snv | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | 21 | 26844557 | missense variant | G/A | snv | 4.2E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.120 | 21 | 37749345 | intron variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.120 | 21 | 31390097 | intron variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.695 | 0.480 | 21 | 25572410 | intron variant | T/A | snv | 7.5E-02 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 21 | 45176099 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 |
|
0.020 | 1.000 | 2 | 2005 | 2010 | |||||||
|
0.649 | 0.520 | 20 | 46014472 | missense variant | G/A;C | snv | 0.16 |
|
0.020 | 1.000 | 2 | 2005 | 2007 | ||||||||
|
0.667 | 0.520 | 20 | 46013767 | missense variant | G/C;T | snv | 0.88; 1.6E-05 |
|
0.020 | 1.000 | 2 | 2005 | 2007 | ||||||||
|
0.925 | 0.080 | 20 | 3800494 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.925 | 0.120 | 20 | 56387716 | intron variant | T/A;C;G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.602 | 0.680 | 20 | 46007337 | upstream gene variant | C/T | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.080 | 20 | 49984094 | missense variant | T/C | snv | 0.18 | 0.29 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.851 | 0.160 | 20 | 56369012 | downstream gene variant | G/A | snv | 0.42 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.611 | 0.680 | 20 | 58909201 | synonymous variant | T/C | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 |
|
0.020 | 1.000 | 2 | 2015 | 2018 | |||||||
|
0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 |
|
0.020 | 1.000 | 2 | 2015 | 2019 |