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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
28 | 0.695 | 0.480 | 8 | 93795970 | missense variant | T/A;C | snv | 8.0E-06; 1.5E-04 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.160 | 7 | 117559594 | missense variant | T/A;C;G | snv | 9.4E-04 | 0.700 | 0 | |||||||
|
22 | 0.716 | 0.480 | 8 | 93786255 | missense variant | C/T | snv | 2.0E-05 | 0.700 | 0 | |||||||
|
7 | 0.882 | 0.120 | 8 | 19955993 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
7 | 0.882 | 0.120 | 8 | 19960948 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 10 | 30230903 | regulatory region variant | C/T | snv | 0.64 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | X | 106250703 | intergenic variant | G/A | snv | 0.17 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.080 | X | 106917472 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.882 | 0.080 | X | 106940440 | intron variant | C/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.040 | X | 106897095 | intron variant | G/A | snv | 0.28 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.040 | 3 | 2035283 | intergenic variant | G/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | X | 106919404 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 1.000 | 0.040 | 9 | 95555669 | intergenic variant | A/T | snv | 3.9E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.851 | 0.080 | X | 106956972 | missense variant | G/A | snv | 0.58 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
23 | 0.672 | 0.360 | 3 | 122284922 | missense variant | A/G | snv | 0.15 | 9.0E-02 | 0.010 | < 0.001 | 1 | 2007 | 2007 | |||
|
9 | 0.827 | 0.320 | 12 | 25245345 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
56 | 0.592 | 0.760 | 1 | 225831932 | missense variant | T/C | snv | 0.32 | 0.27 | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||
|
2 | 0.925 | 0.040 | 7 | 142751808 | splice donor variant | G/A | snv | 3.6E-05 | 9.8E-05 | 0.010 | < 0.001 | 1 | 2004 | 2004 | |||
|
3 | 0.882 | 0.040 | 7 | 142751937 | missense variant | C/G;T | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
26 | 0.667 | 0.400 | 20 | 3213196 | missense variant | C/A;G | snv | 7.5E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
27 | 0.653 | 0.600 | 15 | 81305928 | missense variant | T/G | snv | 9.6E-02 | 0.12 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
4 | 0.851 | 0.120 | 8 | 19955863 | missense variant | C/G;T | snv | 1.5E-04 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
3 | 0.882 | 0.160 | 7 | 117642528 | missense variant | G/A;T | snv | 1.3E-03 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
5 | 0.851 | 0.080 | 1 | 15445717 | missense variant | C/T | snv | 4.4E-03 | 3.8E-03 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.040 | 7 | 142765617 | intron variant | G/A | snv | 0.51 | 0.010 | < 0.001 | 1 | 2019 | 2019 |