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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.776 | 0.200 | 2 | 112013193 | intron variant | A/G | snv | 0.58 |
|
0.710 | 1.000 | 1 | 2012 | 2018 | ||||||||
|
0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 |
|
0.100 | 0.969 | 196 | 2009 | 2019 | ||||||||
|
0.581 | 0.600 | 19 | 39252525 | upstream gene variant | T/G | snv | 0.16 |
|
0.100 | 0.965 | 113 | 2010 | 2019 | ||||||||
|
0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 |
|
0.100 | 0.905 | 21 | 2011 | 2019 | |||||||
|
0.701 | 0.360 | 19 | 39241143 | upstream gene variant | A/G | snv | 0.36 |
|
0.100 | 1.000 | 18 | 2011 | 2019 | ||||||||
|
0.742 | 0.280 | 19 | 39248514 | frameshift variant | TT/G;T | delins |
|
0.100 | 1.000 | 18 | 2014 | 2019 | |||||||||
|
0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 |
|
0.100 | 0.882 | 17 | 1998 | 2020 | |||||||
|
0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 |
|
0.100 | 0.929 | 14 | 2000 | 2010 | |||||||
|
0.667 | 0.400 | 20 | 3213196 | missense variant | C/A;G | snv | 7.5E-02 |
|
0.100 | 0.900 | 10 | 2011 | 2018 | ||||||||
|
0.724 | 0.200 | 6 | 31398818 | upstream gene variant | C/T | snv | 0.41 |
|
0.100 | 1.000 | 10 | 2012 | 2019 | ||||||||
|
0.602 | 0.640 | 4 | 186082920 | missense variant | C/G;T | snv | 1.2E-04; 0.28 |
|
0.070 | 1.000 | 7 | 2009 | 2016 | ||||||||
|
0.776 | 0.200 | 20 | 3213247 | intron variant | A/C | snv | 8.7E-02 | 9.7E-02 |
|
0.070 | 1.000 | 7 | 2011 | 2018 | |||||||
|
0.925 | 0.080 | 19 | 39244283 | intron variant | A/G | snv | 0.30 |
|
0.060 | 1.000 | 6 | 2011 | 2015 | ||||||||
|
0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 |
|
0.050 | 1.000 | 5 | 2007 | 2019 | ||||||||
|
0.882 | 0.120 | 19 | 39244466 | missense variant | T/C | snv | 0.29 | 0.40 |
|
0.050 | 1.000 | 5 | 2011 | 2015 | |||||||
|
0.763 | 0.360 | X | 12885540 | missense variant | A/C;T | snv | 0.18 | 0.18 |
|
0.040 | 1.000 | 4 | 2008 | 2018 | |||||||
|
0.572 | 0.680 | 3 | 46357717 | missense variant | G/A | snv | 0.13 | 0.12 |
|
0.040 | 1.000 | 4 | 2004 | 2019 | |||||||
|
0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 |
|
0.040 | 1.000 | 4 | 2013 | 2018 | ||||||||
|
0.882 | 0.120 | 19 | 39243580 | 3 prime UTR variant | C/A | snv | 0.39 |
|
0.040 | 1.000 | 4 | 2012 | 2017 | ||||||||
|
0.630 | 0.440 | 19 | 19268740 | missense variant | C/T | snv | 6.5E-02 | 5.8E-02 |
|
0.040 | 1.000 | 4 | 2016 | 2019 | |||||||
|
1.000 | 0.080 | 1 | 24155450 | 3 prime UTR variant | G/A | snv | 0.63 |
|
0.030 | 1.000 | 3 | 2011 | 2014 | ||||||||
|
0.882 | 0.160 | 19 | 39247938 | missense variant | G/A | snv | 0.25 | 8.1E-02 |
|
0.030 | 1.000 | 3 | 2017 | 2019 | |||||||
|
0.724 | 0.240 | 1 | 159205564 | missense variant | G/A | snv | 0.51 | 0.66 |
|
0.030 | 0.667 | 3 | 2011 | 2019 | |||||||
|
0.851 | 0.160 | 19 | 11131368 | synonymous variant | G/A | snv | 0.24 | 0.22 |
|
0.030 | 1.000 | 3 | 2011 | 2013 | |||||||
|
0.925 | 0.160 | 19 | 39244145 | missense variant | G/A | snv | 4.0E-06 |
|
0.030 | 1.000 | 3 | 2017 | 2019 |