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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.160 | 11 | 65570699 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.925 | 0.080 | 17 | 49359387 | intron variant | G/A;C | snv |
|
0.710 | 1.000 | 1 | 2011 | 2015 | |||||||||
|
0.925 | 0.080 | 17 | 49321080 | intron variant | T/A | snv | 8.1E-03 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 17 | 49337732 | intron variant | T/G | snv | 3.7E-02 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 10 | 79067076 | intron variant | A/G | snv | 5.4E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.701 | 0.280 | 5 | 83075927 | intron variant | T/G | snv | 9.2E-02 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.708 | 0.240 | 5 | 83142293 | intron variant | GATGAGGAAACTAACTCTCAGTGGTGTTTA/- | delins | 0.48 |
|
0.020 | 1.000 | 2 | 2011 | 2013 | ||||||||
|
0.689 | 0.480 | 5 | 83353124 | splice acceptor variant | G/A | snv | 0.23 | 0.25 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.716 | 0.280 | 5 | 83323739 | intron variant | -/CCT | delins | 0.24 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.620 | 0.440 | 7 | 152648922 | missense variant | C/G;T | snv | 4.0E-06; 6.4E-02 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
0.100 | 0.900 | 10 | 2004 | 2018 | |||||||
|
0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 |
|
0.040 | 0.500 | 4 | 2007 | 2014 | |||||||
|
0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 |
|
0.030 | 1.000 | 3 | 2007 | 2015 | ||||||||
|
0.925 | 0.080 | 19 | 43552170 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.851 | 0.120 | 19 | 43552189 | missense variant | T/C | snv | 7.2E-03 | 2.6E-02 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.080 | 19 | 43552176 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.827 | 0.120 | 3 | 14178523 | missense variant | G/C;T | snv | 4.2E-02; 8.1E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.570 | 0.480 | 3 | 14145949 | missense variant | G/T | snv | 0.63 | 0.65 |
|
0.050 | 0.800 | 5 | 2007 | 2019 | |||||||
|
0.925 | 0.080 | 10 | 102821531 | intron variant | A/C | snv | 0.50 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.851 | 0.120 | 16 | 31092475 | intron variant | A/G | snv | 0.66 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.120 | 3 | 10141653 | 5 prime UTR variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.576 | 0.720 | 6 | 43784799 | 3 prime UTR variant | C/T | snv | 0.13 |
|
0.020 | 0.500 | 2 | 2014 | 2019 | ||||||||
|
0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv |
|
0.020 | 0.500 | 2 | 2013 | 2018 | |||||||||
|
0.641 | 0.680 | 6 | 43770093 | upstream gene variant | A/G | snv | 0.76 |
|
0.010 | 1.000 | 1 | 2014 | 2014 |