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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.200 | 14 | 102251978 | missense variant | A/G | snv | 1.4E-05 |
|
0.020 | 1.000 | 2 | 2011 | 2016 | ||||||||
|
0.763 | 0.280 | 11 | 102530930 | upstream gene variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.716 | 0.160 | 7 | 106867593 | missense variant | T/G | snv | 8.4E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.708 | 0.440 | 12 | 112450406 | missense variant | G/A;C | snv |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | |||||||||
|
0.882 | 0.280 | 1 | 11247922 | missense variant | G/A;C | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.040 | 1 | 1228495 | frameshift variant | CGCGGCTCCGC/-;CGCGGCTCCGCCGCGGCTCCGC | delins | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 9 | 130872201 | missense variant | G/C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.827 | 0.280 | 2 | 136114915 | stop gained | G/C | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.689 | 0.440 | 3 | 138759306 | missense variant | T/C | snv | 1.2E-05 |
|
0.020 | 1.000 | 2 | 2011 | 2012 | ||||||||
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.100 | 0.857 | 14 | 2010 | 2019 | |||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.100 | 0.857 | 14 | 2010 | 2019 | ||||||||
|
0.807 | 0.080 | 5 | 143400101 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.658 | 0.320 | 1 | 173868254 | splice donor variant | CAAGG/- | delins | 8.8E-02 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.597 | 0.560 | 5 | 177093242 | missense variant | G/A | snv | 0.33 | 0.26 |
|
0.030 | 1.000 | 3 | 2004 | 2015 | |||||||
|
0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
22 | 20087052 | non coding transcript exon variant | C/T | snv | 0.12 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
22 | 20111059 | 3 prime UTR variant | G/A | snv | 0.12 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.882 | 0.120 | 1 | 214657274 | stop gained | A/G;T | snv | 0.61 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.851 | 0.080 | 2 | 215409981 | missense variant | A/T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.080 | 9 | 21971061 | missense variant | C/A;T | snv | 8.5E-05 | 3.7E-04 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.050 | 0.800 | 5 | 2011 | 2017 | ||||||||
|
0.658 | 0.440 | 16 | 28606193 | missense variant | C/T | snv | 0.22 | 0.30 |
|
0.010 | 1.000 | 1 | 2019 | 2019 |