| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.708 | 0.320 | 17 | 43092919 | missense variant | G/A;C;T | snv | 0.40; 1.6E-05 |
|
0.060 | 0.667 | 6 | 2009 | 2019 | ||||||||
|
0.807 | 0.280 | 17 | 43071077 | missense variant | T/A;C | snv | 5.2E-05; 0.35 |
|
0.020 | 0.500 | 2 | 2014 | 2019 | ||||||||
|
0.882 | 0.080 | 17 | 43091983 | missense variant | T/A;C | snv | 0.35 | 0.31 |
|
0.020 | 1.000 | 2 | 2011 | 2011 | |||||||
|
0.827 | 0.240 | 17 | 43092418 | missense variant | T/C;G | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.882 | 0.080 | 17 | 43093220 | synonymous variant | A/G | snv | 0.35 | 0.29 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.851 | 0.160 | 17 | 43044391 | 3 prime UTR variant | G/A | snv | 0.34 | 0.31 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.807 | 0.120 | 17 | 43045257 | 3 prime UTR variant | C/A | snv | 0.34 | 0.29 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.080 | 17 | 43099914 | intron variant | G/A;C;T | snv | 0.17 | 0.16 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.851 | 0.080 | 17 | 43093454 | missense variant | C/A;T | snv | 5.8E-02 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.752 | 0.240 | 17 | 43094464 | missense variant | T/C | snv | 4.7E-02 | 4.6E-02 |
|
0.030 | 0.667 | 3 | 2002 | 2018 | |||||||
|
0.925 | 0.080 | 17 | 43070958 | missense variant | C/T | snv | 1.8E-02 | 1.4E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.080 | 17 | 43074471 | missense variant | C/A | snv | 2.4E-03 | 2.4E-03 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.851 | 0.160 | 17 | 43093010 | missense variant | G/A | snv | 1.7E-03 | 1.4E-03 |
|
0.010 | 1.000 | 1 | 1996 | 1996 | |||||||
|
0.925 | 0.080 | 17 | 43071031 | missense variant | A/G | snv | 1.5E-03 | 9.6E-04 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.925 | 0.080 | 17 | 43097246 | splice region variant | G/A | snv | 1.5E-03 | 1.2E-03 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.882 | 0.200 | 17 | 43097266 | missense variant | C/T | snv | 3.0E-04 | 2.2E-04 |
|
0.710 | 0.952 | 1 | 1994 | 2017 | |||||||
|
0.925 | 0.080 | 17 | 43094075 | missense variant | A/G;T | snv | 2.8E-04; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.925 | 0.080 | 17 | 43093883 | missense variant | T/G | snv | 2.6E-04 | 2.9E-04 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.851 | 0.200 | 17 | 43099786 | missense variant | T/C | snv | 2.6E-04 | 2.9E-04 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.827 | 0.200 | 17 | 43057062 | frameshift variant | -/G | delins | 1.8E-04 |
|
0.710 | < 0.001 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 17 | 43093245 | missense variant | T/A;C | snv | 1.4E-04 | 4.2E-05 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.851 | 0.120 | 17 | 43104138 | missense variant | G/T | snv | 1.0E-04 | 4.2E-05 |
|
0.710 | 1.000 | 1 | 1994 | 2017 | |||||||
|
0.925 | 0.080 | 17 | 43047699 | stop gained | A/T | snv | 9.9E-05 | 2.0E-04 |
|
0.710 | 1.000 | 1 | 1994 | 2017 | |||||||
|
0.925 | 0.080 | 17 | 43091792 | missense variant | C/T | snv | 9.6E-05 | 6.3E-05 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | |||||||
|
0.732 | 0.280 | 17 | 43106487 | missense variant | A/C;G;T | snv | 3.2E-05 |
|
0.870 | 1.000 | 7 | 2004 | 2019 |