| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
19 | 35756950 | missense variant | G/A | snv | 8.9E-04 | 1.3E-03 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
1 | 230712433 | intron variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||||
|
10 | 51145734 | intron variant | A/G | snv | 0.45 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1 | 156114996 | synonymous variant | C/T | snv | 2.2E-05 | 2.8E-05 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
15 | 69028303 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
16 | 2084306 | frameshift variant | -/TCTCCTCG | delins |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
0.925 | 0.040 | 5 | 156595000 | missense variant | T/G | snv | 2.0E-04 | 1.3E-04 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.882 | 0.040 | 12 | 6019277 | missense variant | T/A;C | snv | 4.0E-06; 0.69 |
|
0.010 | < 0.001 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.040 | X | 100862805 | missense variant | G/A | snv | 5.9E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 3 | 38555664 | missense variant | G/A | snv | 5.6E-05 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.080 | 3 | 46860813 | missense variant | G/A;C;T | snv | 7.2E-05; 1.7E-04 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 7 | 150965242 | intron variant | C/T | snv | 0.70 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.080 | 7 | 80661053 | intron variant | A/G | snv | 0.97 | 0.92 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.080 | 6 | 31531826 | intron variant | C/G | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.120 | 3 | 38554309 | missense variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.925 | 0.120 | 7 | 150951484 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.120 | 3 | 38575424 | missense variant | G/A | snv | 1.4E-04 | 7.7E-05 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.827 | 0.120 | 11 | 89451807 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.120 | 1 | 156115162 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.807 | 0.160 | 1 | 182112825 | intron variant | C/T | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.160 | 15 | 73323445 | missense variant | G/C | snv | 7.8E-03 | 7.2E-03 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.160 | X | 101398432 | missense variant | C/A;T | snv | 3.0E-03; 5.4E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.827 | 0.160 | 1 | 156134830 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.851 | 0.200 | 17 | 63941169 | missense variant | A/T | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.790 | 0.200 | 1 | 222650187 | intron variant | A/C;G;T | snv | 0.64; 6.4E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 |