| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 40354405 | missense variant | A/G | snv | 0.78 | 0.76 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
22 | 20087052 | non coding transcript exon variant | C/T | snv | 0.12 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
8 | 38412508 | 3 prime UTR variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
17 | 7676113 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||||
|
22 | 20111059 | 3 prime UTR variant | G/A | snv | 0.12 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
7 | 55198779 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
4 | 54277974 | missense variant | T/C | snv | 3.5E-05 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
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 | |||||||||
|
0.925 | 0.080 | 19 | 41479679 | non coding transcript exon variant | G/A | snv | 0.42 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.807 | 0.080 | 5 | 143400101 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.827 | 0.080 | X | 67723710 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||||
|
0.851 | 0.080 | 2 | 215409981 | missense variant | A/T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.080 | 6 | 43774362 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
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 | |||||||
|
0.851 | 0.080 | 17 | 51171503 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 1995 | 1995 | |||||||||
|
0.807 | 0.080 | 12 | 68839587 | missense variant | A/G | snv | 1.5E-04 | 5.1E-04 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | |||||||
|
0.925 | 0.080 | 12 | 52907235 | intron variant | C/T | snv | 0.12 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.120 | 17 | 51161744 | missense variant | A/G | snv | 6.0E-05 | 7.0E-05 |
|
0.010 | 1.000 | 1 | 1995 | 1995 | |||||||
|
0.882 | 0.120 | 17 | 7673255 | synonymous variant | G/A | snv | 5.3E-06 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | ||||||||
|
0.827 | 0.120 | 8 | 42369287 | missense variant | C/G | snv | 1.1E-02 | 1.1E-02 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.882 | 0.120 | 1 | 214657274 | stop gained | A/G;T | snv | 0.61 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.716 | 0.160 | 7 | 106867593 | missense variant | T/G | snv | 8.4E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.790 | 0.160 | 15 | 98960571 | 3 prime UTR variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.882 | 0.160 | 20 | 58903752 | missense variant | C/G;T | snv | 0.54 |
|
0.010 | 1.000 | 1 | 2019 | 2019 |